Canonical Allele Identifier: CA1327141137
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932644A= , CM000664.2:g.214932644A= GRCh38
NC_000002.11:g.215797368A= , CM000664.1:g.215797368A= GRCh37
NC_000002.10:g.215505613A= NCBI36
NG_007074.1:g.210784T=

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.7778T= (ABCA12) MANE Select ENSP00000272895.7:p.Met2593=
ENST00000272895.11:c.7778T= (ABCA12) ENSP00000272895.7:p.Met2593=
ENST00000389661.4:c.6824T= (ABCA12) ENSP00000374312.4:p.Met2275=
NM_015657.3:c.6824T= (ABCA12) NP_056472.2:p.Met2275=
NM_173076.2:c.7778T= (ABCA12) NP_775099.2:p.Met2593=
NR_103740.1:n.8078T= (ABCA12)
NR_110292.1:n.322-15181A= (SNHG31)
XM_011510951.1:c.7787T= (ABCA12) XP_011509253.1:p.Met2596=
XM_011510951.2:c.7787T= (ABCA12) XP_011509253.1:p.Met2596=
NM_173076.3:c.7778T= (ABCA12) MANE Select NP_775099.2:p.Met2593=
NR_103740.2:n.8276T= (ABCA12)
NM_015657.4:c.6824T= (ABCA12) NP_056472.2:p.Met2275=