Canonical Allele Identifier: CA1327174112
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011480T= , CM000664.2:g.215011480T= GRCh38
NC_000002.11:g.215876204T= , CM000664.1:g.215876204T= GRCh37
NC_000002.10:g.215584449T= NCBI36
NG_007074.1:g.131948A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.2291A= MANE Select ENSP00000272895.7:p.Lys764=
ENST00000272895.11:c.2291A= ENSP00000272895.7:p.Lys764=
ENST00000389661.4:c.1337A= ENSP00000374312.4:p.Lys446=
NM_015657.3:c.1337A= NP_056472.2:p.Lys446=
NM_173076.2:c.2291A= NP_775099.2:p.Lys764=
NR_103740.1:n.2535A=
XM_011510951.1:c.2291A= XP_011509253.1:p.Lys764=
XM_011510952.1:c.2291A= XP_011509254.1:p.Lys764=
XM_011510951.2:c.2291A= XP_011509253.1:p.Lys764=
NM_173076.3:c.2291A= MANE Select NP_775099.2:p.Lys764=
NR_103740.2:n.2733A=
NM_015657.4:c.1337A= NP_056472.2:p.Lys446=