Canonical Allele Identifier: CA448782605
Gene: ALDH5A1 HGNC NCBI

Linked Data

dbSNP Id: rs1759248882
MyVariant Identifiers: chr6:g.24503622C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.24503394C>G , CM000668.2:g.24503394C>G GRCh38
NC_000006.11:g.24503622C>G , CM000668.1:g.24503622C>G GRCh37
NC_000006.10:g.24611601C>G NCBI36
NG_008161.1:g.13426C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357578.8:c.570C>G MANE Select ENSP00000350191.3:p.Val190=
ENST00000672352.1:c.333C>G ENSP00000500876.1:p.Val111=
ENST00000672557.1:c.488C>G
ENST00000672652.1:c.491C>G
ENST00000675422.1:n.1330C>G
ENST00000348925.2:c.570C>G ENSP00000314649.3:p.Val190=
ENST00000357578.7:c.570C>G ENSP00000350191.3:p.Val190=
ENST00000491546.5:c.486C>G ENSP00000417687.1:p.Val162=
NM_001080.3:c.570C>G MANE Select NP_001071.1:p.Val190=
NM_170740.1:c.570C>G NP_733936.1:p.Val190=
NM_001368954.1:c.570C>G NP_001355883.1:p.Val190=