Canonical Allele Identifier: CA373511584
Gene: ALDH1B1 HGNC NCBI

Linked Data

gnomAD v4: 9-38396497-C-A
MyVariant Identifiers: chr9:g.38396494C>A (hg19) chr9:g.38396497C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396497C>A , CM000671.2:g.38396497C>A GRCh38
NC_000009.11:g.38396494C>A , CM000671.1:g.38396494C>A GRCh37
NC_000009.10:g.38386494C>A NCBI36
NG_012253.1:g.8793C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.749C>A MANE Select ENSP00000366927.3:p.Ala250Asp
ENST00000377698.3:c.749C>A ENSP00000366927.3:p.Ala250Asp
NM_000692.4:c.749C>A NP_000683.3:p.Ala250Asp
XM_011517802.1:c.749C>A XP_011516104.1:p.Ala250Asp
XM_011517802.2:c.749C>A XP_011516104.1:p.Ala250Asp
NM_000692.5:c.749C>A MANE Select NP_000683.3:p.Ala250Asp
Search 100 bp 5'
Search 100 bp 3'