Canonical Allele Identifier: CA2770332153

Gene: ALDH5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24528278T>C , CM000668.2:g.24528278T>C	GRCh38
NC_000006.11:g.24528506T>C , CM000668.1:g.24528506T>C	GRCh37
NC_000006.10:g.24636485T>C	NCBI36
NG_008161.1:g.38310T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.1343+112T>C MANE Select	ENSP00000350191.3:n.1343+112T>C
ENST00000479394.2:n.458+112T>C
ENST00000672352.1:c.962+112T>C	ENSP00000500876.1:n.962+112T>C
ENST00000672652.1:c.1306+112T>C
ENST00000348925.2:c.1382+112T>C	ENSP00000314649.3:n.1382+112T>C
ENST00000357578.7:c.1343+112T>C	ENSP00000350191.3:n.1343+112T>C
ENST00000479394.1:n.458+112T>C
ENST00000491546.5:c.1259+112T>C	ENSP00000417687.1:n.1259+112T>C
NM_001080.3:c.1343+112T>C MANE Select	NP_001071.1:n.1343+112T>C
NM_170740.1:c.1382+112T>C	NP_733936.1:n.1382+112T>C
NM_001368954.1:c.1199+112T>C	NP_001355883.1:n.1199+112T>C