Canonical Allele Identifier: CA2090634
Gene: ABCA12 HGNC NCBI

Linked Data

ClinVar Variation Id: 419453
dbSNP Id: rs199503269

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214937608G>A , CM000664.2:g.214937608G>A GRCh38
NC_000002.11:g.215802332G>A , CM000664.1:g.215802332G>A GRCh37
NC_000002.10:g.215510577G>A NCBI36
NG_007074.1:g.205820C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.7444C>T MANE Select ENSP00000272895.7:p.Arg2482Ter
ENST00000272895.11:c.7444C>T ENSP00000272895.7:p.Arg2482Ter
ENST00000389661.4:c.6490C>T ENSP00000374312.4:p.Arg2164Ter
NM_015657.3:c.6490C>T NP_056472.2:p.Arg2164Ter
NM_173076.2:c.7444C>T NP_775099.2:p.Arg2482Ter
NR_103740.1:n.7744C>T
NR_110292.1:n.322-10217G>A
XM_011510951.1:c.7453C>T XP_011509253.1:p.Arg2485Ter
XM_011510951.2:c.7453C>T XP_011509253.1:p.Arg2485Ter
NM_173076.3:c.7444C>T MANE Select NP_775099.2:p.Arg2482Ter
NR_103740.2:n.7942C>T
NM_015657.4:c.6490C>T NP_056472.2:p.Arg2164Ter