Canonical Allele Identifier: CA5063995

Gene: ALDH1B1

Linked Data

• dbSNP Id: rs760920116
• ExAC: 9:38396592 AC / A
• gnomAD v2: 9-38396592-AC-A
• gnomAD v4: 9-38396595-AC-A
• MyVariant Identifiers: chr9:g.38396593del (hg19) ; chr9:g.38396596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.38396598del , CM000671.2:g.38396598del	GRCh38
NC_000009.11:g.38396595del , CM000671.1:g.38396595del	GRCh37
NC_000009.10:g.38386595del	NCBI36
NG_012253.1:g.8894del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377698.4:c.850del MANE Select	ENSP00000366927.3:p.Leu284TrpfsTer?
ENST00000377698.3:c.850del	ENSP00000366927.3:p.Leu284TrpfsTer?
NM_000692.4:c.850del	NP_000683.3:p.Leu284TrpfsTer?
XM_011517802.1:c.850del	XP_011516104.1:p.Leu284TrpfsTer?
XM_011517802.2:c.850del	XP_011516104.1:p.Leu284TrpfsTer?
NM_000692.5:c.850del MANE Select	NP_000683.3:p.Leu284TrpfsTer?