Canonical Allele Identifier: CA3656547
Gene: ALDH5A1 HGNC NCBI
GPLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24495001C>T , CM000668.2:g.24495001C>T GRCh38
NC_000006.11:g.24495229C>T , CM000668.1:g.24495229C>T GRCh37
NC_000006.10:g.24603208C>T NCBI36
NG_008161.1:g.5033C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.5C>T (ALDH5A1) MANE Select ENSP00000350191.3:p.Ala2Val
ENST00000348925.2:c.5C>T (ALDH5A1) ENSP00000314649.3:p.Ala2Val
ENST00000357578.7:c.5C>T (ALDH5A1) ENSP00000350191.3:p.Ala2Val
ENST00000474784.5:n.205G>A (GPLD1)
ENST00000475417.1:n.199G>A (GPLD1)
ENST00000491546.5:c.5C>T (ALDH5A1) ENSP00000417687.1:p.Ala2Val
NM_001080.3:c.5C>T (ALDH5A1) MANE Select NP_001071.1:p.Ala2Val
NM_170740.1:c.5C>T (ALDH5A1) NP_733936.1:p.Ala2Val
XM_011514509.1:c.10G>A (GPLD1) XP_011512811.1:p.Ala4Thr
XM_017010753.2:c.10G>A (GPLD1) XP_016866242.1:p.Ala4Thr
XR_002956277.1:n.232G>A (GPLD1)
NM_001368954.1:c.5C>T (ALDH5A1) NP_001355883.1:p.Ala2Val