Canonical Allele Identifier: CA448782588
Gene: ALDH5A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.24503604G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503376G>A , CM000668.2:g.24503376G>A GRCh38
NC_000006.11:g.24503604G>A , CM000668.1:g.24503604G>A GRCh37
NC_000006.10:g.24611583G>A NCBI36
NG_008161.1:g.13408G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.552G>A MANE Select ENSP00000350191.3:p.Lys184=
ENST00000672352.1:c.315G>A ENSP00000500876.1:p.Lys105=
ENST00000672557.1:c.470G>A
ENST00000672652.1:c.473G>A
ENST00000675422.1:n.1312G>A
ENST00000348925.2:c.552G>A ENSP00000314649.3:p.Lys184=
ENST00000357578.7:c.552G>A ENSP00000350191.3:p.Lys184=
ENST00000491546.5:c.468G>A ENSP00000417687.1:p.Lys156=
NM_001080.3:c.552G>A MANE Select NP_001071.1:p.Lys184=
NM_170740.1:c.552G>A NP_733936.1:p.Lys184=
NM_001368954.1:c.552G>A NP_001355883.1:p.Lys184=