Canonical Allele Identifier: CA350461127

Gene: ABCA12

Linked Data

• gnomAD v4: 2-214980599-C-G
• MyVariant Identifiers: chr2:g.215845323C>G (hg19) ; chr2:g.214980599C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980599C>G , CM000664.2:g.214980599C>G	GRCh38
NC_000002.11:g.215845323C>G , CM000664.1:g.215845323C>G	GRCh37
NC_000002.10:g.215553568C>G	NCBI36
NG_007074.1:g.162829G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.4624G>C MANE Select	ENSP00000272895.7:p.Val1542Leu
ENST00000272895.11:c.4624G>C	ENSP00000272895.7:p.Val1542Leu
ENST00000389661.4:c.3670G>C	ENSP00000374312.4:p.Val1224Leu
NM_015657.3:c.3670G>C	NP_056472.2:p.Val1224Leu
NM_173076.2:c.4624G>C	NP_775099.2:p.Val1542Leu
NR_103740.1:n.4924G>C
XM_011510951.1:c.4633G>C	XP_011509253.1:p.Val1545Leu
XM_011510952.1:c.4633G>C	XP_011509254.1:p.Val1545Leu
XM_011510951.2:c.4633G>C	XP_011509253.1:p.Val1545Leu
NM_173076.3:c.4624G>C MANE Select	NP_775099.2:p.Val1542Leu
NR_103740.2:n.5122G>C
NM_015657.4:c.3670G>C	NP_056472.2:p.Val1224Leu