Canonical Allele Identifier: CA362968752

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24495350G>C , CM000668.2:g.24495350G>C	GRCh38
NC_000006.11:g.24495578G>C , CM000668.1:g.24495578G>C	GRCh37
NC_000006.10:g.24603557G>C	NCBI36
NG_008161.1:g.5382G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.354G>C MANE Select	NP_001071.1:p.Lys118Asn
ENST00000357578.8:c.354G>C MANE Select	ENSP00000350191.3:p.Lys118Asn
NM_001368954.1:c.354G>C	NP_001355883.1:p.Lys118Asn
NM_170740.1:c.354G>C	NP_733936.1:p.Lys118Asn
ENST00000348925.2:c.354G>C	ENSP00000314649.3:p.Lys118Asn
ENST00000357578.7:c.354G>C	ENSP00000350191.3:p.Lys118Asn
ENST00000491546.5:c.354G>C	ENSP00000417687.1:p.Lys118Asn
ENST00000672352.1:c.117G>C	ENSP00000500876.1:p.Lys39Asn
ENST00000672557.1:c.115G>C
ENST00000672652.1:c.275G>C