Linked Data
dbSNP Id:
rs746041859
ExAC:
3:15643037 C / G
gnomAD v2:
3-15643037-C-G
gnomAD v4:
3-15601530-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.15601530C>G , CM000665.2:g.15601530C>G | GRCh38 |
| NC_000003.11:g.15643037C>G , CM000665.1:g.15643037C>G | GRCh37 |
| NC_000003.10:g.15618041C>G | NCBI36 |
| NG_008019.1:g.4783C>G | |
| NG_008019.2:g.5179C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321169.10:c.-67G>C (HACL1) MANE Select | ENSP00000323811.5:n.-67G>C | |
| ENST00000427382.2:c.-134C>G (BTD) | ENSP00000397113.2:n.-134C>G | |
| ENST00000449107.7:c.-257C>G (BTD) | ENSP00000388212.2:n.-257C>G | |
| ENST00000321169.9:c.-67G>C (HACL1) | ENSP00000323811.5:n.-67G>C | |
| ENST00000383779.8:c.-67G>C (HACL1) | ENSP00000373289.4:n.-67G>C | |
| ENST00000414979.1:c.-67G>C (HACL1) | ENSP00000395352.1:n.-67G>C | |
| ENST00000417015.1:c.126C>G (BTD) | ENSP00000403775.1:p.Asn42Lys | |
| ENST00000421993.5:c.-67G>C (HACL1) | ENSP00000391393.1:n.-67G>C | |
| ENST00000422591.5:c.-67G>C (HACL1) | ENSP00000392796.1:n.-67G>C | |
| ENST00000427382.1:c.-134C>G (BTD) | ENSP00000397113.1:n.-134C>G | |
| ENST00000435217.6:c.-67G>C (HACL1) | ENSP00000395278.2:n.-67G>C | |
| ENST00000451445.6:c.-67G>C (HACL1) | ENSP00000403656.2:n.-67G>C | |
| ENST00000456194.6:c.-67G>C (HACL1) | ENSP00000390699.2:n.-67G>C | |
| ENST00000457447.6:c.-67G>C (HACL1) | ENSP00000404883.2:n.-67G>C | |
| ENST00000460907.1:n.40G>C (HACL1) | ||
| ENST00000472857.1:n.17G>C (HACL1) | ||
| ENST00000494021.1:n.161C>G (BTD) | ||
| ENST00000628377.2:c.-67G>C (HACL1) | ENSP00000486684.1:n.-67G>C | |
| NM_001281723.1:c.-191C>G (BTD) | NP_001268652.1:n.-191C>G | |
| NM_001284413.1:c.-67G>C (HACL1) | NP_001271342.1:n.-67G>C | |
| NM_001284415.1:c.-67G>C (HACL1) | NP_001271344.1:n.-67G>C | |
| NM_001284416.1:c.-67G>C (HACL1) | NP_001271345.1:n.-67G>C | |
| NM_012260.3:c.-67G>C (HACL1) | NP_036392.2:n.-67G>C | |
| NR_104315.1:n.323G>C (HACL1) | ||
| NM_001281723.2:c.-191C>G (BTD) | NP_001268652.1:n.-191C>G | |
| NM_001281723.3:c.-257C>G (BTD) | NP_001268652.2:n.-257C>G | |
| NM_001284413.2:c.-67G>C (HACL1) | NP_001271342.1:n.-67G>C | |
| NM_001284415.2:c.-67G>C (HACL1) | NP_001271344.1:n.-67G>C | |
| NM_001284416.2:c.-67G>C (HACL1) | NP_001271345.1:n.-67G>C | |
| NM_012260.4:c.-67G>C (HACL1) MANE Select | NP_036392.2:n.-67G>C | |
| NR_104315.2:n.40G>C (HACL1) |