Canonical Allele Identifier: CA448781992
Gene: ALDH5A1 HGNC NCBI
GPLD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24495020G>C , CM000668.2:g.24495020G>C GRCh38
NC_000006.11:g.24495248G>C , CM000668.1:g.24495248G>C GRCh37
NC_000006.10:g.24603227G>C NCBI36
NG_008161.1:g.5052G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.24G>C (ALDH5A1) MANE Select ENSP00000350191.3:p.Arg8=
ENST00000348925.2:c.24G>C (ALDH5A1) ENSP00000314649.3:p.Arg8=
ENST00000357578.7:c.24G>C (ALDH5A1) ENSP00000350191.3:p.Arg8=
ENST00000474784.5:n.186C>G (GPLD1)
ENST00000475417.1:n.180C>G (GPLD1)
ENST00000491546.5:c.24G>C (ALDH5A1) ENSP00000417687.1:p.Arg8=
NM_001080.3:c.24G>C (ALDH5A1) MANE Select NP_001071.1:p.Arg8=
NM_170740.1:c.24G>C (ALDH5A1) NP_733936.1:p.Arg8=
XM_011514509.1:c.-10C>G (GPLD1) XP_011512811.1:n.-10C>G
XM_017010753.2:c.-10C>G (GPLD1) XP_016866242.1:n.-10C>G
XR_002956277.1:n.213C>G (GPLD1)
NM_001368954.1:c.24G>C (ALDH5A1) NP_001355883.1:p.Arg8=