Canonical Allele Identifier: CA350446284

Gene: ABCA12 SNHG31

Linked Data

• MyVariant Identifiers: chr2:g.215818725T>A (hg19) ; chr2:g.214954001T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214954001T>A , CM000664.2:g.214954001T>A	GRCh38
NC_000002.11:g.215818725T>A , CM000664.1:g.215818725T>A	GRCh37
NC_000002.10:g.215526970T>A	NCBI36
NG_007074.1:g.189427A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.6500A>T (ABCA12) MANE Select	ENSP00000272895.7:p.Asp2167Val
ENST00000272895.11:c.6500A>T (ABCA12)	ENSP00000272895.7:p.Asp2167Val
ENST00000389661.4:c.5546A>T (ABCA12)	ENSP00000374312.4:p.Asp1849Val
NM_015657.3:c.5546A>T (ABCA12)	NP_056472.2:p.Asp1849Val
NM_173076.2:c.6500A>T (ABCA12)	NP_775099.2:p.Asp2167Val
NR_103740.1:n.6800A>T (ABCA12)
NR_110292.1:n.444+6054T>A (SNHG31)
XM_011510951.1:c.6509A>T (ABCA12)	XP_011509253.1:p.Asp2170Val
XM_011510951.2:c.6509A>T (ABCA12)	XP_011509253.1:p.Asp2170Val
NM_173076.3:c.6500A>T (ABCA12) MANE Select	NP_775099.2:p.Asp2167Val
NR_103740.2:n.6998A>T (ABCA12)
NM_015657.4:c.5546A>T (ABCA12)	NP_056472.2:p.Asp1849Val