Canonical Allele Identifier: CA764559143

Gene: ABCA12

Linked Data

• dbSNP Id: rs1377140212
• MyVariant Identifiers: chr2:g.215884207G>A (hg19) ; chr2:g.215019483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019483G>A , CM000664.2:g.215019483G>A	GRCh38
NC_000002.11:g.215884207G>A , CM000664.1:g.215884207G>A	GRCh37
NC_000002.10:g.215592452G>A	NCBI36
NG_007074.1:g.123945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1545-35C>T MANE Select	ENSP00000272895.7:n.1545-35C>T
ENST00000272895.11:c.1545-35C>T	ENSP00000272895.7:n.1545-35C>T
ENST00000389661.4:c.591-35C>T	ENSP00000374312.4:n.591-35C>T
NM_015657.3:c.591-35C>T	NP_056472.2:n.591-35C>T
NM_173076.2:c.1545-35C>T	NP_775099.2:n.1545-35C>T
NR_103740.1:n.1789-35C>T
XM_011510951.1:c.1545-35C>T	XP_011509253.1:n.1545-35C>T
XM_011510952.1:c.1545-35C>T	XP_011509254.1:n.1545-35C>T
XM_011510951.2:c.1545-35C>T	XP_011509253.1:n.1545-35C>T
NM_173076.3:c.1545-35C>T MANE Select	NP_775099.2:n.1545-35C>T
NR_103740.2:n.1987-35C>T
NM_015657.4:c.591-35C>T	NP_056472.2:n.591-35C>T