Canonical Allele Identifier: CA362968078

Gene: ALDH5A1 GPLD1

Linked Data

• MyVariant Identifiers: chr6:g.24495242G>C (hg19) ; chr6:g.24495014G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.24495014G>C , CM000668.2:g.24495014G>C	GRCh38
NC_000006.11:g.24495242G>C , CM000668.1:g.24495242G>C	GRCh37
NC_000006.10:g.24603221G>C	NCBI36
NG_008161.1:g.5046G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357578.8:c.18G>C (ALDH5A1) MANE Select	ENSP00000350191.3:p.Trp6Cys
ENST00000348925.2:c.18G>C (ALDH5A1)	ENSP00000314649.3:p.Trp6Cys
ENST00000357578.7:c.18G>C (ALDH5A1)	ENSP00000350191.3:p.Trp6Cys
ENST00000474784.5:n.192C>G (GPLD1)
ENST00000475417.1:n.186C>G (GPLD1)
ENST00000491546.5:c.18G>C (ALDH5A1)	ENSP00000417687.1:p.Trp6Cys
NM_001080.3:c.18G>C (ALDH5A1) MANE Select	NP_001071.1:p.Trp6Cys
NM_170740.1:c.18G>C (ALDH5A1)	NP_733936.1:p.Trp6Cys
XM_011514509.1:c.-4C>G (GPLD1)	XP_011512811.1:n.-4C>G
XM_017010753.2:c.-4C>G (GPLD1)	XP_016866242.1:n.-4C>G
XR_002956277.1:n.219C>G (GPLD1)
NM_001368954.1:c.18G>C (ALDH5A1)	NP_001355883.1:p.Trp6Cys