Canonical Allele Identifier: CA490587273
Gene: ALDH1A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.58302911G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.58010713G>C , CM000677.2:g.58010713G>C GRCh38
NC_000015.9:g.58302911G>C , CM000677.1:g.58302911G>C GRCh37
NC_000015.8:g.56090203G>C NCBI36
NG_012259.1:g.59996C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000249750.9:c.429C>G MANE Select ENSP00000249750.4:p.Val143=
ENST00000249750.8:c.429C>G ENSP00000249750.4:p.Val143=
ENST00000347587.7:c.429C>G ENSP00000309623.3:p.Val143=
ENST00000430119.6:c.*403C>G ENSP00000416754.2:n.*403C>G
ENST00000537372.5:c.366C>G ENSP00000438296.1:p.Val122=
ENST00000558231.5:c.342C>G ENSP00000453600.1:p.Val114=
ENST00000559266.5:n.318+3145C>G
ENST00000559517.5:c.141C>G ENSP00000453408.1:p.Val47=
ENST00000561070.5:c.141C>G ENSP00000452850.1:p.Val47=
NM_001206897.1:c.366C>G NP_001193826.1:p.Val122=
NM_003888.3:c.429C>G NP_003879.2:p.Val143=
NM_170696.2:c.429C>G NP_733797.1:p.Val143=
NM_170697.2:c.141C>G NP_733798.1:p.Val47=
XM_024450095.1:c.429C>G XP_024305863.1:p.Val143=
NM_003888.4:c.429C>G MANE Select NP_003879.2:p.Val143=
NM_170696.3:c.429C>G NP_733797.1:p.Val143=
NM_170697.3:c.141C>G NP_733798.1:p.Val47=
NM_001206897.2:c.366C>G NP_001193826.1:p.Val122=