Canonical Allele Identifier: CA2090597

Gene: ABCA12 SNHG31

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214934127G>A , CM000664.2:g.214934127G>A	GRCh38
NC_000002.11:g.215798851G>A , CM000664.1:g.215798851G>A	GRCh37
NC_000002.10:g.215507096G>A	NCBI36
NG_007074.1:g.209301C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.7631C>T (ABCA12) MANE Select	NP_775099.2:p.Thr2544Ile
ENST00000272895.12:c.7631C>T (ABCA12) MANE Select	ENSP00000272895.7:p.Thr2544Ile
NM_015657.3:c.6677C>T (ABCA12)	NP_056472.2:p.Thr2226Ile
NM_015657.4:c.6677C>T (ABCA12)	NP_056472.2:p.Thr2226Ile
NM_173076.2:c.7631C>T (ABCA12)	NP_775099.2:p.Thr2544Ile
NR_103740.1:n.7931C>T (ABCA12)
NR_103740.2:n.8129C>T (ABCA12)
NR_110292.1:n.322-13698G>A (SNHG31)
ENST00000272895.11:c.7631C>T (ABCA12)	ENSP00000272895.7:p.Thr2544Ile
ENST00000389661.4:c.6677C>T (ABCA12)	ENSP00000374312.4:p.Thr2226Ile
XM_011510951.1:c.7640C>T (ABCA12)	XP_011509253.1:p.Thr2547Ile
XM_011510951.2:c.7640C>T (ABCA12)	XP_011509253.1:p.Thr2547Ile