Canonical Allele Identifier: CA1327174078
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011396G= , CM000664.2:g.215011396G= GRCh38
NC_000002.11:g.215876120G= , CM000664.1:g.215876120G= GRCh37
NC_000002.10:g.215584365G= NCBI36
NG_007074.1:g.132032C=

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.2332+43C= MANE Select ENSP00000272895.7:n.2332+43C=
ENST00000272895.11:c.2332+43C= ENSP00000272895.7:n.2332+43C=
ENST00000389661.4:c.1378+43C= ENSP00000374312.4:n.1378+43C=
NM_015657.3:c.1378+43C= NP_056472.2:n.1378+43C=
NM_173076.2:c.2332+43C= NP_775099.2:n.2332+43C=
NR_103740.1:n.2576+43C=
XM_011510951.1:c.2332+43C= XP_011509253.1:n.2332+43C=
XM_011510952.1:c.2332+43C= XP_011509254.1:n.2332+43C=
XM_011510951.2:c.2332+43C= XP_011509253.1:n.2332+43C=
NM_173076.3:c.2332+43C= MANE Select NP_775099.2:n.2332+43C=
NR_103740.2:n.2774+43C=
NM_015657.4:c.1378+43C= NP_056472.2:n.1378+43C=