Canonical Allele Identifier: CA373512082
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs1352229299
gnomAD v3: 9-38396605-T-C
gnomAD v4: 9-38396605-T-C
MyVariant Identifiers: chr9:g.38396602T>C (hg19) chr9:g.38396605T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396605T>C , CM000671.2:g.38396605T>C GRCh38
NC_000009.11:g.38396602T>C , CM000671.1:g.38396602T>C GRCh37
NC_000009.10:g.38386602T>C NCBI36
NG_012253.1:g.8901T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.857T>C MANE Select ENSP00000366927.3:p.Leu286Pro
ENST00000377698.3:c.857T>C ENSP00000366927.3:p.Leu286Pro
NM_000692.4:c.857T>C NP_000683.3:p.Leu286Pro
XM_011517802.1:c.857T>C XP_011516104.1:p.Leu286Pro
XM_011517802.2:c.857T>C XP_011516104.1:p.Leu286Pro
NM_000692.5:c.857T>C MANE Select NP_000683.3:p.Leu286Pro
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