Canonical Allele Identifier: CA2090693

Gene: ABCA12 SNHG31

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214945068G>A , CM000664.2:g.214945068G>A	GRCh38
NC_000002.11:g.215809792G>A , CM000664.1:g.215809792G>A	GRCh37
NC_000002.10:g.215518037G>A	NCBI36
NG_007074.1:g.198360C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173076.3:c.7276C>T (ABCA12) MANE Select	NP_775099.2:p.Arg2426Trp
ENST00000272895.12:c.7276C>T (ABCA12) MANE Select	ENSP00000272895.7:p.Arg2426Trp
NM_015657.3:c.6322C>T (ABCA12)	NP_056472.2:p.Arg2108Trp
NM_015657.4:c.6322C>T (ABCA12)	NP_056472.2:p.Arg2108Trp
NM_173076.2:c.7276C>T (ABCA12)	NP_775099.2:p.Arg2426Trp
NR_103740.1:n.7576C>T (ABCA12)
NR_103740.2:n.7774C>T (ABCA12)
NR_110292.1:n.322-2757G>A (SNHG31)
ENST00000272895.11:c.7276C>T (ABCA12)	ENSP00000272895.7:p.Arg2426Trp
ENST00000389661.4:c.6322C>T (ABCA12)	ENSP00000374312.4:p.Arg2108Trp
XM_011510951.1:c.7285C>T (ABCA12)	XP_011509253.1:p.Arg2429Trp
XM_011510951.2:c.7285C>T (ABCA12)	XP_011509253.1:p.Arg2429Trp