Canonical Allele Identifier: CA764553677
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1395073244

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011360A>G , CM000664.2:g.215011360A>G GRCh38
NC_000002.11:g.215876084A>G , CM000664.1:g.215876084A>G GRCh37
NC_000002.10:g.215584329A>G NCBI36
NG_007074.1:g.132068T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.2332+79T>C MANE Select ENSP00000272895.7:n.2332+79T>C
ENST00000272895.11:c.2332+79T>C ENSP00000272895.7:n.2332+79T>C
ENST00000389661.4:c.1378+79T>C ENSP00000374312.4:n.1378+79T>C
NM_015657.3:c.1378+79T>C NP_056472.2:n.1378+79T>C
NM_173076.2:c.2332+79T>C NP_775099.2:n.2332+79T>C
NR_103740.1:n.2576+79T>C
XM_011510951.1:c.2332+79T>C XP_011509253.1:n.2332+79T>C
XM_011510952.1:c.2332+79T>C XP_011509254.1:n.2332+79T>C
XM_011510951.2:c.2332+79T>C XP_011509253.1:n.2332+79T>C
NM_173076.3:c.2332+79T>C MANE Select NP_775099.2:n.2332+79T>C
NR_103740.2:n.2774+79T>C
NM_015657.4:c.1378+79T>C NP_056472.2:n.1378+79T>C