Canonical Allele Identifier: CA364306890
Gene: SLC29A1 HGNC NCBI
POLR1C HGNC NCBI

Linked Data

dbSNP Id: rs760876039
gnomAD v3: 6-44230643-G-T
gnomAD v4: 6-44230643-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44230643G>T , CM000668.2:g.44230643G>T GRCh38
NC_000006.11:g.44198380G>T , CM000668.1:g.44198380G>T GRCh37
NC_000006.10:g.44306358G>T NCBI36
NG_042893.1:g.16139G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371713.6:c.665G>T (SLC29A1) ENSP00000360778.1:p.Cys222Phe
ENST00000371724.6:c.665G>T (SLC29A1) ENSP00000360789.1:p.Cys222Phe
ENST00000371740.10:c.665G>T (SLC29A1) ENSP00000360805.6:p.Cys222Phe
ENST00000371755.9:c.665G>T (SLC29A1) MANE Select ENSP00000360820.3:p.Cys222Phe
ENST00000393844.7:c.665G>T (SLC29A1) ENSP00000377427.1:p.Cys222Phe
ENST00000472176.2:n.1063G>T (SLC29A1)
ENST00000643028.2:c.608G>T (SLC29A1) ENSP00000495211.2:p.Cys203Phe
ENST00000646251.1:c.352G>T (SLC29A1)
ENST00000651428.1:c.665G>T (SLC29A1) ENSP00000498610.1:p.Cys222Phe
ENST00000652453.1:c.665G>T (SLC29A1) ENSP00000499107.1:p.Cys222Phe
ENST00000652680.1:c.665G>T (SLC29A1) ENSP00000498747.1:p.Cys222Phe
ENST00000371708.1:c.665G>T (SLC29A1) ENSP00000360773.1:p.Cys222Phe
ENST00000371713.5:c.665G>T (SLC29A1) ENSP00000360778.1:p.Cys222Phe
ENST00000371724.5:c.665G>T (SLC29A1) ENSP00000360789.1:p.Cys222Phe
ENST00000371731.5:c.665G>T (SLC29A1) ENSP00000360796.1:p.Cys222Phe
ENST00000371740.9:c.665G>T (SLC29A1) ENSP00000360805.5:p.Cys222Phe
ENST00000371755.7:c.665G>T (SLC29A1) ENSP00000360820.3:p.Cys222Phe
ENST00000393841.5:c.665G>T (SLC29A1) ENSP00000377424.1:p.Cys222Phe
ENST00000393844.5:c.665G>T (SLC29A1) ENSP00000377427.1:p.Cys222Phe
ENST00000427851.6:c.665G>T (SLC29A1) ENSP00000392668.2:p.Cys222Phe
ENST00000472176.1:n.854G>T (SLC29A1)
NM_001078175.2:c.665G>T (SLC29A1) NP_001071643.1:p.Cys222Phe
NM_001078177.1:c.665G>T (SLC29A1) NP_001071645.1:p.Cys222Phe
NM_001304462.1:c.902G>T (SLC29A1) NP_001291391.1:p.Cys301Phe
NM_001304463.1:c.791G>T (SLC29A1) NP_001291392.1:p.Cys264Phe
NM_001304465.1:c.743G>T (SLC29A1) NP_001291394.1:p.Cys248Phe
NM_001304466.1:c.740G>T (SLC29A1) NP_001291395.1:p.Cys247Phe
XM_005248876.3:c.794G>T (SLC29A1) XP_005248933.1:p.Cys265Phe
XM_005248878.3:c.665G>T (SLC29A1) XP_005248935.1:p.Cys222Phe
XM_005248879.3:c.665G>T (SLC29A1) XP_005248936.1:p.Cys222Phe
XM_005248880.3:c.665G>T (SLC29A1) XP_005248937.1:p.Cys222Phe
XM_005248881.3:c.665G>T (SLC29A1) XP_005248938.1:p.Cys222Phe
XM_005248882.3:c.665G>T (SLC29A1) XP_005248939.1:p.Cys222Phe
XM_011514341.1:c.905G>T (SLC29A1) XP_011512643.1:p.Cys302Phe
XM_005248876.5:c.794G>T (SLC29A1) XP_005248933.1:p.Cys265Phe
XM_005248878.4:c.665G>T (SLC29A1) XP_005248935.1:p.Cys222Phe
XM_005248879.4:c.665G>T (SLC29A1) XP_005248936.1:p.Cys222Phe
XM_005248880.4:c.665G>T (SLC29A1) XP_005248937.1:p.Cys222Phe
XM_005248881.4:c.665G>T (SLC29A1) XP_005248938.1:p.Cys222Phe
XM_005248882.4:c.665G>T (SLC29A1) XP_005248939.1:p.Cys222Phe
XM_011514341.2:c.905G>T (SLC29A1) XP_011512643.1:p.Cys302Phe
XM_024446348.1:c.665G>T (SLC29A1) XP_024302116.1:p.Cys222Phe
NM_001078175.3:c.665G>T (SLC29A1) NP_001071643.1:p.Cys222Phe
NM_001078177.2:c.665G>T (SLC29A1) NP_001071645.1:p.Cys222Phe
NM_001304462.2:c.902G>T (SLC29A1) NP_001291391.1:p.Cys301Phe
NM_001304465.2:c.743G>T (SLC29A1) NP_001291394.1:p.Cys248Phe
NM_001304466.2:c.740G>T (SLC29A1) NP_001291395.1:p.Cys247Phe
NM_001372327.1:c.665G>T (SLC29A1) MANE Select NP_001359256.1:p.Cys222Phe
NM_001318876.2:c.946-211247G>T (POLR1C) NP_001305805.1:n.946-211247G>T