Canonical Allele Identifier: CA362969398

Gene: ALDH5A1

Linked Data

• dbSNP Id: rs1759242207
• COSMIC: COSM5795902
• MyVariant Identifiers: chr6:g.24503496G>C (hg19) ; chr6:g.24503268G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24503268G>C , CM000668.2:g.24503268G>C	GRCh38
NC_000006.11:g.24503496G>C , CM000668.1:g.24503496G>C	GRCh37
NC_000006.10:g.24611475G>C	NCBI36
NG_008161.1:g.13300G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.444G>C MANE Select	ENSP00000350191.3:p.Lys148Asn
ENST00000672352.1:c.207G>C	ENSP00000500876.1:p.Lys69Asn
ENST00000672557.1:c.362G>C
ENST00000672652.1:c.365G>C
ENST00000675422.1:n.1204G>C
ENST00000348925.2:c.444G>C	ENSP00000314649.3:p.Lys148Asn
ENST00000357578.7:c.444G>C	ENSP00000350191.3:p.Lys148Asn
ENST00000491546.5:c.360G>C	ENSP00000417687.1:p.Lys120Asn
NM_001080.3:c.444G>C MANE Select	NP_001071.1:p.Lys148Asn
NM_170740.1:c.444G>C	NP_733936.1:p.Lys148Asn
NM_001368954.1:c.444G>C	NP_001355883.1:p.Lys148Asn