Linked Data
dbSNP Id:
rs45573936
ExAC:
6:44198362 T / C
gnomAD v2:
6-44198362-T-C
gnomAD v3:
6-44230625-T-C
gnomAD v4:
6-44230625-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44230625T>C , CM000668.2:g.44230625T>C | GRCh38 |
| NC_000006.11:g.44198362T>C , CM000668.1:g.44198362T>C | GRCh37 |
| NC_000006.10:g.44306340T>C | NCBI36 |
| NG_042893.1:g.16121T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371713.6:c.647T>C (SLC29A1) | ENSP00000360778.1:p.Ile216Thr | |
| ENST00000371724.6:c.647T>C (SLC29A1) | ENSP00000360789.1:p.Ile216Thr | |
| ENST00000371740.10:c.647T>C (SLC29A1) | ENSP00000360805.6:p.Ile216Thr | |
| ENST00000371755.9:c.647T>C (SLC29A1) MANE Select | ENSP00000360820.3:p.Ile216Thr | |
| ENST00000393844.7:c.647T>C (SLC29A1) | ENSP00000377427.1:p.Ile216Thr | |
| ENST00000472176.2:n.1045T>C (SLC29A1) | ||
| ENST00000643028.2:c.590T>C (SLC29A1) | ENSP00000495211.2:p.Ile197Thr | |
| ENST00000646251.1:c.334T>C (SLC29A1) | ||
| ENST00000651428.1:c.647T>C (SLC29A1) | ENSP00000498610.1:p.Ile216Thr | |
| ENST00000652453.1:c.647T>C (SLC29A1) | ENSP00000499107.1:p.Ile216Thr | |
| ENST00000652680.1:c.647T>C (SLC29A1) | ENSP00000498747.1:p.Ile216Thr | |
| ENST00000371708.1:c.647T>C (SLC29A1) | ENSP00000360773.1:p.Ile216Thr | |
| ENST00000371713.5:c.647T>C (SLC29A1) | ENSP00000360778.1:p.Ile216Thr | |
| ENST00000371724.5:c.647T>C (SLC29A1) | ENSP00000360789.1:p.Ile216Thr | |
| ENST00000371731.5:c.647T>C (SLC29A1) | ENSP00000360796.1:p.Ile216Thr | |
| ENST00000371740.9:c.647T>C (SLC29A1) | ENSP00000360805.5:p.Ile216Thr | |
| ENST00000371755.7:c.647T>C (SLC29A1) | ENSP00000360820.3:p.Ile216Thr | |
| ENST00000393841.5:c.647T>C (SLC29A1) | ENSP00000377424.1:p.Ile216Thr | |
| ENST00000393844.5:c.647T>C (SLC29A1) | ENSP00000377427.1:p.Ile216Thr | |
| ENST00000427851.6:c.647T>C (SLC29A1) | ENSP00000392668.2:p.Ile216Thr | |
| ENST00000472176.1:n.836T>C (SLC29A1) | ||
| NM_001078175.2:c.647T>C (SLC29A1) | NP_001071643.1:p.Ile216Thr | |
| NM_001078177.1:c.647T>C (SLC29A1) | NP_001071645.1:p.Ile216Thr | |
| NM_001304462.1:c.884T>C (SLC29A1) | NP_001291391.1:p.Ile295Thr | |
| NM_001304463.1:c.773T>C (SLC29A1) | NP_001291392.1:p.Ile258Thr | |
| NM_001304465.1:c.725T>C (SLC29A1) | NP_001291394.1:p.Ile242Thr | |
| NM_001304466.1:c.722T>C (SLC29A1) | NP_001291395.1:p.Ile241Thr | |
| XM_005248876.3:c.776T>C (SLC29A1) | XP_005248933.1:p.Ile259Thr | |
| XM_005248878.3:c.647T>C (SLC29A1) | XP_005248935.1:p.Ile216Thr | |
| XM_005248879.3:c.647T>C (SLC29A1) | XP_005248936.1:p.Ile216Thr | |
| XM_005248880.3:c.647T>C (SLC29A1) | XP_005248937.1:p.Ile216Thr | |
| XM_005248881.3:c.647T>C (SLC29A1) | XP_005248938.1:p.Ile216Thr | |
| XM_005248882.3:c.647T>C (SLC29A1) | XP_005248939.1:p.Ile216Thr | |
| XM_011514341.1:c.887T>C (SLC29A1) | XP_011512643.1:p.Ile296Thr | |
| XM_005248876.5:c.776T>C (SLC29A1) | XP_005248933.1:p.Ile259Thr | |
| XM_005248878.4:c.647T>C (SLC29A1) | XP_005248935.1:p.Ile216Thr | |
| XM_005248879.4:c.647T>C (SLC29A1) | XP_005248936.1:p.Ile216Thr | |
| XM_005248880.4:c.647T>C (SLC29A1) | XP_005248937.1:p.Ile216Thr | |
| XM_005248881.4:c.647T>C (SLC29A1) | XP_005248938.1:p.Ile216Thr | |
| XM_005248882.4:c.647T>C (SLC29A1) | XP_005248939.1:p.Ile216Thr | |
| XM_011514341.2:c.887T>C (SLC29A1) | XP_011512643.1:p.Ile296Thr | |
| XM_024446348.1:c.647T>C (SLC29A1) | XP_024302116.1:p.Ile216Thr | |
| NM_001078175.3:c.647T>C (SLC29A1) | NP_001071643.1:p.Ile216Thr | |
| NM_001078177.2:c.647T>C (SLC29A1) | NP_001071645.1:p.Ile216Thr | |
| NM_001304462.2:c.884T>C (SLC29A1) | NP_001291391.1:p.Ile295Thr | |
| NM_001304465.2:c.725T>C (SLC29A1) | NP_001291394.1:p.Ile242Thr | |
| NM_001304466.2:c.722T>C (SLC29A1) | NP_001291395.1:p.Ile241Thr | |
| NM_001372327.1:c.647T>C (SLC29A1) MANE Select | NP_001359256.1:p.Ile216Thr | |
| NM_001318876.2:c.946-211265T>C (POLR1C) | NP_001305805.1:n.946-211265T>C |