Canonical Allele Identifier: CA1327163653
Community Standard Title: NM_173076.3(ABCA12):c.4142G= (p.Gly1381=)
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214986563C= , CM000664.2:g.214986563C= GRCh38
NC_000002.11:g.215851287C= , CM000664.1:g.215851287C= GRCh37
NC_000002.10:g.215559532C= NCBI36
NG_007074.1:g.156865G=

Transcript Alleles

HGVS Amino-acid Change
NM_173076.3:c.4142G= MANE Select NP_775099.2:p.Gly1381=
ENST00000272895.12:c.4142G= MANE Select ENSP00000272895.7:p.Gly1381=
NM_015657.3:c.3188G= NP_056472.2:p.Gly1063=
NM_015657.4:c.3188G= NP_056472.2:p.Gly1063=
NM_173076.2:c.4142G= NP_775099.2:p.Gly1381=
NR_103740.1:n.4442G=
NR_103740.2:n.4640G=
ENST00000272895.11:c.4142G= ENSP00000272895.7:p.Gly1381=
ENST00000389661.4:c.3188G= ENSP00000374312.4:p.Gly1063=
XM_011510951.1:c.4151G= XP_011509253.1:p.Gly1384=
XM_011510951.2:c.4151G= XP_011509253.1:p.Gly1384=
XM_011510952.1:c.4151G= XP_011509254.1:p.Gly1384=