Canonical Allele Identifier: CA362975905

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24522797C>T , CM000668.2:g.24522797C>T	GRCh38
NC_000006.11:g.24523025C>T , CM000668.1:g.24523025C>T	GRCh37
NC_000006.10:g.24631004C>T	NCBI36
NG_008161.1:g.32829C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001080.3:c.1045C>T MANE Select	NP_001071.1:p.Gln349Ter
ENST00000357578.8:c.1045C>T MANE Select	ENSP00000350191.3:p.Gln349Ter
NM_001368954.1:c.901C>T	NP_001355883.1:p.Gln301Ter
NM_170740.1:c.1084C>T	NP_733936.1:p.Gln362Ter
ENST00000348925.2:c.1084C>T	ENSP00000314649.3:p.Gln362Ter
ENST00000357578.7:c.1045C>T	ENSP00000350191.3:p.Gln349Ter
ENST00000479394.1:n.160C>T
ENST00000479394.2:n.160C>T
ENST00000491546.5:c.961C>T	ENSP00000417687.1:p.Gln321Ter
ENST00000672352.1:c.664C>T	ENSP00000500876.1:p.Gln222Ter
ENST00000672619.1:n.405C>T
ENST00000672652.1:c.1008C>T