Canonical Allele Identifier: CA448782589

Gene: ALDH5A1

Linked Data

• gnomAD v4: 6-24503379-C-T
• MyVariant Identifiers: chr6:g.24503607C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503379C>T , CM000668.2:g.24503379C>T	GRCh38
NC_000006.11:g.24503607C>T , CM000668.1:g.24503607C>T	GRCh37
NC_000006.10:g.24611586C>T	NCBI36
NG_008161.1:g.13411C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.555C>T MANE Select	ENSP00000350191.3:p.Asp185=
ENST00000672352.1:c.318C>T	ENSP00000500876.1:p.Asp106=
ENST00000672557.1:c.473C>T
ENST00000672652.1:c.476C>T
ENST00000675422.1:n.1315C>T
ENST00000348925.2:c.555C>T	ENSP00000314649.3:p.Asp185=
ENST00000357578.7:c.555C>T	ENSP00000350191.3:p.Asp185=
ENST00000491546.5:c.471C>T	ENSP00000417687.1:p.Asp157=
NM_001080.3:c.555C>T MANE Select	NP_001071.1:p.Asp185=
NM_170740.1:c.555C>T	NP_733936.1:p.Asp185=
NM_001368954.1:c.555C>T	NP_001355883.1:p.Asp185=