Canonical Allele Identifier: CA5064059

Gene: ALDH1B1

Linked Data

• dbSNP Id: rs758100667
• ExAC: 9:38396879 GA / G
• gnomAD v2: 9-38396879-GA-G
• MyVariant Identifiers: chr9:g.38396880del (hg19) ; chr9:g.38396883del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.38396884del , CM000671.2:g.38396884del	GRCh38
NC_000009.11:g.38396881del , CM000671.1:g.38396881del	GRCh37
NC_000009.10:g.38386881del	NCBI36
NG_012253.1:g.9180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377698.4:c.1136del MANE Select	ENSP00000366927.3:p.Lys379ArgfsTer?
ENST00000377698.3:c.1136del	ENSP00000366927.3:p.Lys379ArgfsTer?
NM_000692.4:c.1136del	NP_000683.3:p.Lys379ArgfsTer?
XM_011517802.1:c.1136del	XP_011516104.1:p.Lys379ArgfsTer?
XM_011517802.2:c.1136del	XP_011516104.1:p.Lys379ArgfsTer?
NM_000692.5:c.1136del MANE Select	NP_000683.3:p.Lys379ArgfsTer?