Canonical Allele Identifier: CA350461208

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980618-G-C
• MyVariant Identifiers: chr2:g.215845342G>C (hg19) ; chr2:g.214980618G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980618G>C , CM000664.2:g.214980618G>C	GRCh38
NC_000002.11:g.215845342G>C , CM000664.1:g.215845342G>C	GRCh37
NC_000002.10:g.215553587G>C	NCBI36
NG_007074.1:g.162810C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4605C>G MANE Select	ENSP00000272895.7:p.His1535Gln
ENST00000272895.11:c.4605C>G	ENSP00000272895.7:p.His1535Gln
ENST00000389661.4:c.3651C>G	ENSP00000374312.4:p.His1217Gln
NM_015657.3:c.3651C>G	NP_056472.2:p.His1217Gln
NM_173076.2:c.4605C>G	NP_775099.2:p.His1535Gln
NR_103740.1:n.4905C>G
XM_011510951.1:c.4614C>G	XP_011509253.1:p.His1538Gln
XM_011510952.1:c.4614C>G	XP_011509254.1:p.His1538Gln
XM_011510951.2:c.4614C>G	XP_011509253.1:p.His1538Gln
NM_173076.3:c.4605C>G MANE Select	NP_775099.2:p.His1535Gln
NR_103740.2:n.5103C>G
NM_015657.4:c.3651C>G	NP_056472.2:p.His1217Gln