Canonical Allele Identifier: CA431148974

Gene: ABCA12

Linked Data

• MyVariant Identifiers: chr2:g.215845338A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214980614A>G , CM000664.2:g.214980614A>G	GRCh38
NC_000002.11:g.215845338A>G , CM000664.1:g.215845338A>G	GRCh37
NC_000002.10:g.215553583A>G	NCBI36
NG_007074.1:g.162814T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.4609T>C MANE Select	ENSP00000272895.7:p.Leu1537=
ENST00000272895.11:c.4609T>C	ENSP00000272895.7:p.Leu1537=
ENST00000389661.4:c.3655T>C	ENSP00000374312.4:p.Leu1219=
NM_015657.3:c.3655T>C	NP_056472.2:p.Leu1219=
NM_173076.2:c.4609T>C	NP_775099.2:p.Leu1537=
NR_103740.1:n.4909T>C
XM_011510951.1:c.4618T>C	XP_011509253.1:p.Leu1540=
XM_011510952.1:c.4618T>C	XP_011509254.1:p.Leu1540=
XM_011510951.2:c.4618T>C	XP_011509253.1:p.Leu1540=
NM_173076.3:c.4609T>C MANE Select	NP_775099.2:p.Leu1537=
NR_103740.2:n.5107T>C
NM_015657.4:c.3655T>C	NP_056472.2:p.Leu1219=