Canonical Allele Identifier: CA350461201

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215845340T>G (hg19) ; chr2:g.214980616T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980616T>G , CM000664.2:g.214980616T>G	GRCh38
NC_000002.11:g.215845340T>G , CM000664.1:g.215845340T>G	GRCh37
NC_000002.10:g.215553585T>G	NCBI36
NG_007074.1:g.162812A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4607A>C MANE Select	ENSP00000272895.7:p.His1536Pro
ENST00000272895.11:c.4607A>C	ENSP00000272895.7:p.His1536Pro
ENST00000389661.4:c.3653A>C	ENSP00000374312.4:p.His1218Pro
NM_015657.3:c.3653A>C	NP_056472.2:p.His1218Pro
NM_173076.2:c.4607A>C	NP_775099.2:p.His1536Pro
NR_103740.1:n.4907A>C
XM_011510951.1:c.4616A>C	XP_011509253.1:p.His1539Pro
XM_011510952.1:c.4616A>C	XP_011509254.1:p.His1539Pro
XM_011510951.2:c.4616A>C	XP_011509253.1:p.His1539Pro
NM_173076.3:c.4607A>C MANE Select	NP_775099.2:p.His1536Pro
NR_103740.2:n.5105A>C
NM_015657.4:c.3653A>C	NP_056472.2:p.His1218Pro