Canonical Allele Identifier: CA1327142819
Community Standard Title: NM_173076.3(ABCA12):c.7444C= (p.Arg2482=)
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_173076.3:c.7444C= (ABCA12) MANE Select NP_775099.2:p.Arg2482=
ENST00000272895.12:c.7444C= (ABCA12) MANE Select ENSP00000272895.7:p.Arg2482=
NM_015657.3:c.6490C= (ABCA12) NP_056472.2:p.Arg2164=
NM_015657.4:c.6490C= (ABCA12) NP_056472.2:p.Arg2164=
NM_173076.2:c.7444C= (ABCA12) NP_775099.2:p.Arg2482=
NR_103740.1:n.7744C= (ABCA12)
NR_103740.2:n.7942C= (ABCA12)
NR_110292.1:n.322-10217G= (SNHG31)
ENST00000272895.11:c.7444C= (ABCA12) ENSP00000272895.7:p.Arg2482=
ENST00000389661.4:c.6490C= (ABCA12) ENSP00000374312.4:p.Arg2164=
XM_011510951.1:c.7453C= (ABCA12) XP_011509253.1:p.Arg2485=
XM_011510951.2:c.7453C= (ABCA12) XP_011509253.1:p.Arg2485=