Canonical Allele Identifier: CA431387892

Gene: ABCA12

Linked Data

• ClinVar Variation Id: 3023011
• ClinVar RCV Id: RCV003882197
• dbSNP Id: rs1700583629
• MyVariant Identifiers: chr2:g.215884389G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.215019665G>A , CM000664.2:g.215019665G>A	GRCh38
NC_000002.11:g.215884389G>A , CM000664.1:g.215884389G>A	GRCh37
NC_000002.10:g.215592634G>A	NCBI36
NG_007074.1:g.123763C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.1419C>T MANE Select	ENSP00000272895.7:p.Leu473=
ENST00000272895.11:c.1419C>T	ENSP00000272895.7:p.Leu473=
ENST00000389661.4:c.465C>T	ENSP00000374312.4:p.Leu155=
NM_015657.3:c.465C>T	NP_056472.2:p.Leu155=
NM_173076.2:c.1419C>T	NP_775099.2:p.Leu473=
NR_103740.1:n.1663C>T
XM_011510951.1:c.1419C>T	XP_011509253.1:p.Leu473=
XM_011510952.1:c.1419C>T	XP_011509254.1:p.Leu473=
XM_011510951.2:c.1419C>T	XP_011509253.1:p.Leu473=
NM_173076.3:c.1419C>T MANE Select	NP_775099.2:p.Leu473=
NR_103740.2:n.1861C>T
NM_015657.4:c.465C>T	NP_056472.2:p.Leu155=