Canonical Allele Identifier: CA10588334
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 265002
ClinVar RCV Id: RCV000255237
dbSNP Id: rs886039296

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215018130G>A , CM000664.2:g.215018130G>A GRCh38
NC_000002.11:g.215882854G>A , CM000664.1:g.215882854G>A GRCh37
NC_000002.10:g.215591099G>A NCBI36
NG_007074.1:g.125298C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.1660C>T MANE Select ENSP00000272895.7:p.Gln554Ter
ENST00000272895.11:c.1660C>T ENSP00000272895.7:p.Gln554Ter
ENST00000389661.4:c.706C>T ENSP00000374312.4:p.Gln236Ter
NM_015657.3:c.706C>T NP_056472.2:p.Gln236Ter
NM_173076.2:c.1660C>T NP_775099.2:p.Gln554Ter
NR_103740.1:n.1904C>T
XM_011510951.1:c.1660C>T XP_011509253.1:p.Gln554Ter
XM_011510952.1:c.1660C>T XP_011509254.1:p.Gln554Ter
XM_011510951.2:c.1660C>T XP_011509253.1:p.Gln554Ter
NM_173076.3:c.1660C>T MANE Select NP_775099.2:p.Gln554Ter
NR_103740.2:n.2102C>T
NM_015657.4:c.706C>T NP_056472.2:p.Gln236Ter