Canonical Allele Identifier: CA350460812
Gene: ABCA12 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214980525T>G , CM000664.2:g.214980525T>G GRCh38
NC_000002.11:g.215845249T>G , CM000664.1:g.215845249T>G GRCh37
NC_000002.10:g.215553494T>G NCBI36
NG_007074.1:g.162903A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.4698A>C MANE Select ENSP00000272895.7:p.Glu1566Asp
ENST00000272895.11:c.4698A>C ENSP00000272895.7:p.Glu1566Asp
ENST00000389661.4:c.3744A>C ENSP00000374312.4:p.Glu1248Asp
NM_015657.3:c.3744A>C NP_056472.2:p.Glu1248Asp
NM_173076.2:c.4698A>C NP_775099.2:p.Glu1566Asp
NR_103740.1:n.4998A>C
XM_011510951.1:c.4707A>C XP_011509253.1:p.Glu1569Asp
XM_011510952.1:c.4707A>C XP_011509254.1:p.Glu1569Asp
XM_011510951.2:c.4707A>C XP_011509253.1:p.Glu1569Asp
NM_173076.3:c.4698A>C MANE Select NP_775099.2:p.Glu1566Asp
NR_103740.2:n.5196A>C
NM_015657.4:c.3744A>C NP_056472.2:p.Glu1248Asp