Canonical Allele Identifier: CA2701480351

Gene: ABCA12

Linked Data

• dbSNP Id: rs2106013800

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019810G>C , CM000664.2:g.215019810G>C	GRCh38
NC_000002.11:g.215884534G>C , CM000664.1:g.215884534G>C	GRCh37
NC_000002.10:g.215592779G>C	NCBI36
NG_007074.1:g.123618C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1288-14C>G MANE Select	ENSP00000272895.7:n.1288-14C>G
ENST00000272895.11:c.1288-14C>G	ENSP00000272895.7:n.1288-14C>G
ENST00000389661.4:c.334-14C>G	ENSP00000374312.4:n.334-14C>G
NM_015657.3:c.334-14C>G	NP_056472.2:n.334-14C>G
NM_173076.2:c.1288-14C>G	NP_775099.2:n.1288-14C>G
NR_103740.1:n.1532-14C>G
XM_011510951.1:c.1288-14C>G	XP_011509253.1:n.1288-14C>G
XM_011510952.1:c.1288-14C>G	XP_011509254.1:n.1288-14C>G
XM_011510951.2:c.1288-14C>G	XP_011509253.1:n.1288-14C>G
NM_173076.3:c.1288-14C>G MANE Select	NP_775099.2:n.1288-14C>G
NR_103740.2:n.1730-14C>G
NM_015657.4:c.334-14C>G	NP_056472.2:n.334-14C>G