Canonical Allele Identifier: CA431319324

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1297925605
• gnomAD v3: 2-214944931-C-T
• gnomAD v4: 2-214944931-C-T
• MyVariant Identifiers: chr2:g.215809655C>T (hg19) ; chr2:g.214944931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214944931C>T , CM000664.2:g.214944931C>T	GRCh38
NC_000002.11:g.215809655C>T , CM000664.1:g.215809655C>T	GRCh37
NC_000002.10:g.215517900C>T	NCBI36
NG_007074.1:g.198497G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272895.12:c.7343+70G>A (ABCA12) MANE Select	ENSP00000272895.7:n.7343+70G>A
ENST00000272895.11:c.7343+70G>A (ABCA12)	ENSP00000272895.7:n.7343+70G>A
ENST00000389661.4:c.6389+70G>A (ABCA12)	ENSP00000374312.4:n.6389+70G>A
NM_015657.3:c.6389+70G>A (ABCA12)	NP_056472.2:n.6389+70G>A
NM_173076.2:c.7343+70G>A (ABCA12)	NP_775099.2:n.7343+70G>A
NR_103740.1:n.7643+70G>A (ABCA12)
NR_110292.1:n.322-2894C>T (SNHG31)
XM_011510951.1:c.7352+70G>A (ABCA12)	XP_011509253.1:n.7352+70G>A
XM_011510951.2:c.7352+70G>A (ABCA12)	XP_011509253.1:n.7352+70G>A
NM_173076.3:c.7343+70G>A (ABCA12) MANE Select	NP_775099.2:n.7343+70G>A
NR_103740.2:n.7841+70G>A (ABCA12)
NM_015657.4:c.6389+70G>A (ABCA12)	NP_056472.2:n.6389+70G>A