Canonical Allele Identifier: CA373512255
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396647-T-C
MyVariant Identifiers: chr9:g.38396644T>C (hg19) chr9:g.38396647T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396647T>C , CM000671.2:g.38396647T>C GRCh38
NC_000009.11:g.38396644T>C , CM000671.1:g.38396644T>C GRCh37
NC_000009.10:g.38386644T>C NCBI36
NG_012253.1:g.8943T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.899T>C MANE Select ENSP00000366927.3:p.Met300Thr
ENST00000377698.3:c.899T>C ENSP00000366927.3:p.Met300Thr
NM_000692.4:c.899T>C NP_000683.3:p.Met300Thr
XM_011517802.1:c.899T>C XP_011516104.1:p.Met300Thr
XM_011517802.2:c.899T>C XP_011516104.1:p.Met300Thr
NM_000692.5:c.899T>C MANE Select NP_000683.3:p.Met300Thr
Search 100 bp 5'
Search 100 bp 3'