Canonical Allele Identifier: CA192998190
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs908427494
gnomAD v2: 9-38396595-C-A
gnomAD v3: 9-38396598-C-A
gnomAD v4: 9-38396598-C-A
MyVariant Identifiers: chr9:g.38396595C>A (hg19) chr9:g.38396598C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396598C>A , CM000671.2:g.38396598C>A GRCh38
NC_000009.11:g.38396595C>A , CM000671.1:g.38396595C>A GRCh37
NC_000009.10:g.38386595C>A NCBI36
NG_012253.1:g.8894C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.850C>A MANE Select ENSP00000366927.3:p.Leu284Met
ENST00000377698.3:c.850C>A ENSP00000366927.3:p.Leu284Met
NM_000692.4:c.850C>A NP_000683.3:p.Leu284Met
XM_011517802.1:c.850C>A XP_011516104.1:p.Leu284Met
XM_011517802.2:c.850C>A XP_011516104.1:p.Leu284Met
NM_000692.5:c.850C>A MANE Select NP_000683.3:p.Leu284Met
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