Canonical Allele Identifier: CA1327174114
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011489T= , CM000664.2:g.215011489T= GRCh38
NC_000002.11:g.215876213T= , CM000664.1:g.215876213T= GRCh37
NC_000002.10:g.215584458T= NCBI36
NG_007074.1:g.131939A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.2282A= MANE Select ENSP00000272895.7:p.Lys761=
ENST00000272895.11:c.2282A= ENSP00000272895.7:p.Lys761=
ENST00000389661.4:c.1328A= ENSP00000374312.4:p.Lys443=
NM_015657.3:c.1328A= NP_056472.2:p.Lys443=
NM_173076.2:c.2282A= NP_775099.2:p.Lys761=
NR_103740.1:n.2526A=
XM_011510951.1:c.2282A= XP_011509253.1:p.Lys761=
XM_011510952.1:c.2282A= XP_011509254.1:p.Lys761=
XM_011510951.2:c.2282A= XP_011509253.1:p.Lys761=
NM_173076.3:c.2282A= MANE Select NP_775099.2:p.Lys761=
NR_103740.2:n.2724A=
NM_015657.4:c.1328A= NP_056472.2:p.Lys443=