Canonical Allele Identifier: CA1847331971

Gene: ALDH1B1

Linked Data

• dbSNP Id: rs1821284244
• gnomAD v4: 9-38396322-CAGGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.38396323_38396327del , CM000671.2:g.38396323_38396327del	GRCh38
NC_000009.11:g.38396320_38396324del , CM000671.1:g.38396320_38396324del	GRCh37
NC_000009.10:g.38386320_38386324del	NCBI36
NG_012253.1:g.8619_8623del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377698.4:c.575_579del MANE Select	ENSP00000366927.3:p.Gln192LeufsTer?
ENST00000377698.3:c.575_579del	ENSP00000366927.3:p.Gln192LeufsTer?
NM_000692.4:c.575_579del	NP_000683.3:p.Gln192LeufsTer?
XM_011517802.1:c.575_579del	XP_011516104.1:p.Gln192LeufsTer?
XM_011517802.2:c.575_579del	XP_011516104.1:p.Gln192LeufsTer?
NM_000692.5:c.575_579del MANE Select	NP_000683.3:p.Gln192LeufsTer?