Canonical Allele Identifier: CA252481

Gene: ABCA12 SNHG31

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214948607C>T , CM000664.2:g.214948607C>T	GRCh38
NC_000002.11:g.215813331C>T , CM000664.1:g.215813331C>T	GRCh37
NC_000002.10:g.215521576C>T	NCBI36
NG_007074.1:g.194821G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.7093G>A (ABCA12) MANE Select	NP_775099.2:p.Asp2365Asn
ENST00000272895.12:c.7093G>A (ABCA12) MANE Select	ENSP00000272895.7:p.Asp2365Asn
NM_015657.3:c.6139G>A (ABCA12)	NP_056472.2:p.Asp2047Asn
NM_015657.4:c.6139G>A (ABCA12)	NP_056472.2:p.Asp2047Asn
NM_173076.2:c.7093G>A (ABCA12)	NP_775099.2:p.Asp2365Asn
NR_103740.1:n.7393G>A (ABCA12)
NR_103740.2:n.7591G>A (ABCA12)
NR_110292.1:n.444+660C>T (SNHG31)
ENST00000272895.11:c.7093G>A (ABCA12)	ENSP00000272895.7:p.Asp2365Asn
ENST00000389661.4:c.6139G>A (ABCA12)	ENSP00000374312.4:p.Asp2047Asn
XM_011510951.1:c.7102G>A (ABCA12)	XP_011509253.1:p.Asp2368Asn
XM_011510951.2:c.7102G>A (ABCA12)	XP_011509253.1:p.Asp2368Asn