Canonical Allele Identifier: CA5063965
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs747754718
ExAC: 9:38396476 C / T
gnomAD v2: 9-38396476-C-T
gnomAD v3: 9-38396479-C-T
gnomAD v4: 9-38396479-C-T
MyVariant Identifiers: chr9:g.38396476C>T (hg19) chr9:g.38396479C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396479C>T , CM000671.2:g.38396479C>T GRCh38
NC_000009.11:g.38396476C>T , CM000671.1:g.38396476C>T GRCh37
NC_000009.10:g.38386476C>T NCBI36
NG_012253.1:g.8775C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.731C>T MANE Select ENSP00000366927.3:p.Thr244Ile
ENST00000377698.3:c.731C>T ENSP00000366927.3:p.Thr244Ile
NM_000692.4:c.731C>T NP_000683.3:p.Thr244Ile
XM_011517802.1:c.731C>T XP_011516104.1:p.Thr244Ile
XM_011517802.2:c.731C>T XP_011516104.1:p.Thr244Ile
NM_000692.5:c.731C>T MANE Select NP_000683.3:p.Thr244Ile
Search 100 bp 5'
Search 100 bp 3'