Canonical Allele Identifier: CA350483415
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011456C>A , CM000664.2:g.215011456C>A GRCh38
NC_000002.11:g.215876180C>A , CM000664.1:g.215876180C>A GRCh37
NC_000002.10:g.215584425C>A NCBI36
NG_007074.1:g.131972G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.2315G>T MANE Select ENSP00000272895.7:p.Gly772Val
ENST00000272895.11:c.2315G>T ENSP00000272895.7:p.Gly772Val
ENST00000389661.4:c.1361G>T ENSP00000374312.4:p.Gly454Val
NM_015657.3:c.1361G>T NP_056472.2:p.Gly454Val
NM_173076.2:c.2315G>T NP_775099.2:p.Gly772Val
NR_103740.1:n.2559G>T
XM_011510951.1:c.2315G>T XP_011509253.1:p.Gly772Val
XM_011510952.1:c.2315G>T XP_011509254.1:p.Gly772Val
XM_011510951.2:c.2315G>T XP_011509253.1:p.Gly772Val
NM_173076.3:c.2315G>T MANE Select NP_775099.2:p.Gly772Val
NR_103740.2:n.2757G>T
NM_015657.4:c.1361G>T NP_056472.2:p.Gly454Val