Canonical Allele Identifier: CA362970130

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24504944C>T , CM000668.2:g.24504944C>T	GRCh38
NC_000006.11:g.24505172C>T , CM000668.1:g.24505172C>T	GRCh37
NC_000006.10:g.24613151C>T	NCBI36
NG_008161.1:g.14976C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.685C>T MANE Select	NP_001071.1:p.Pro229Ser
ENST00000357578.8:c.685C>T MANE Select	ENSP00000350191.3:p.Pro229Ser
NM_001368954.1:c.685C>T	NP_001355883.1:p.Pro229Ser
NM_170740.1:c.685C>T	NP_733936.1:p.Pro229Ser
ENST00000348925.2:c.685C>T	ENSP00000314649.3:p.Pro229Ser
ENST00000357578.7:c.685C>T	ENSP00000350191.3:p.Pro229Ser
ENST00000491546.5:c.601C>T	ENSP00000417687.1:p.Pro201Ser
ENST00000672352.1:c.448C>T	ENSP00000500876.1:p.Pro150Ser
ENST00000672557.1:c.603C>T
ENST00000672619.1:n.45C>T
ENST00000672652.1:c.606C>T
ENST00000675422.1:n.1445C>T