Canonical Allele Identifier: CA5064090
Gene: ALDH1B1 HGNC NCBI

Linked Data

dbSNP Id: rs758952570
ExAC: 9:38396994 A / G
gnomAD v2: 9-38396994-A-G
gnomAD v3: 9-38396997-A-G
gnomAD v4: 9-38396997-A-G
MyVariant Identifiers: chr9:g.38396994A>G (hg19) chr9:g.38396997A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.38396997A>G , CM000671.2:g.38396997A>G GRCh38
NC_000009.11:g.38396994A>G , CM000671.1:g.38396994A>G GRCh37
NC_000009.10:g.38386994A>G NCBI36
NG_012253.1:g.9293A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377698.4:c.1249A>G MANE Select ENSP00000366927.3:p.Ile417Val
ENST00000377698.3:c.1249A>G ENSP00000366927.3:p.Ile417Val
NM_000692.4:c.1249A>G NP_000683.3:p.Ile417Val
XM_011517802.1:c.1249A>G XP_011516104.1:p.Ile417Val
XM_011517802.2:c.1249A>G XP_011516104.1:p.Ile417Val
NM_000692.5:c.1249A>G MANE Select NP_000683.3:p.Ile417Val
Search 100 bp 5'
Search 100 bp 3'