Canonical Allele Identifier: CA2662975050

Gene: ABCA12 SNHG31

Linked Data

• gnomAD v4: 2-214947416-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214947416T>A , CM000664.2:g.214947416T>A	GRCh38
NC_000002.11:g.215812140T>A , CM000664.1:g.215812140T>A	GRCh37
NC_000002.10:g.215520385T>A	NCBI36
NG_007074.1:g.196012A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7239+6A>T (ABCA12) MANE Select	ENSP00000272895.7:n.7239+6A>T
ENST00000272895.11:c.7239+6A>T (ABCA12)	ENSP00000272895.7:n.7239+6A>T
ENST00000389661.4:c.6285+6A>T (ABCA12)	ENSP00000374312.4:n.6285+6A>T
NM_015657.3:c.6285+6A>T (ABCA12)	NP_056472.2:n.6285+6A>T
NM_173076.2:c.7239+6A>T (ABCA12)	NP_775099.2:n.7239+6A>T
NR_103740.1:n.7539+6A>T (ABCA12)
NR_110292.1:n.322-409T>A (SNHG31)
XM_011510951.1:c.7248+6A>T (ABCA12)	XP_011509253.1:n.7248+6A>T
XM_011510951.2:c.7248+6A>T (ABCA12)	XP_011509253.1:n.7248+6A>T
NM_173076.3:c.7239+6A>T (ABCA12) MANE Select	NP_775099.2:n.7239+6A>T
NR_103740.2:n.7737+6A>T (ABCA12)
NM_015657.4:c.6285+6A>T (ABCA12)	NP_056472.2:n.6285+6A>T