Canonical Allele Identifier: CA431387400

Gene: ABCA12

Linked Data

• gnomAD v4: 2-215019620-C-G
• MyVariant Identifiers: chr2:g.215884344C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019620C>G , CM000664.2:g.215019620C>G	GRCh38
NC_000002.11:g.215884344C>G , CM000664.1:g.215884344C>G	GRCh37
NC_000002.10:g.215592589C>G	NCBI36
NG_007074.1:g.123808G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1464G>C MANE Select	ENSP00000272895.7:p.Leu488=
ENST00000272895.11:c.1464G>C	ENSP00000272895.7:p.Leu488=
ENST00000389661.4:c.510G>C	ENSP00000374312.4:p.Leu170=
NM_015657.3:c.510G>C	NP_056472.2:p.Leu170=
NM_173076.2:c.1464G>C	NP_775099.2:p.Leu488=
NR_103740.1:n.1708G>C
XM_011510951.1:c.1464G>C	XP_011509253.1:p.Leu488=
XM_011510952.1:c.1464G>C	XP_011509254.1:p.Leu488=
XM_011510951.2:c.1464G>C	XP_011509253.1:p.Leu488=
NM_173076.3:c.1464G>C MANE Select	NP_775099.2:p.Leu488=
NR_103740.2:n.1906G>C
NM_015657.4:c.510G>C	NP_056472.2:p.Leu170=