Canonical Allele Identifier: CA2607395349

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs976330417
• gnomAD v3: 2-214932137-C-T
• gnomAD v4: 2-214932137-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932137C>T , CM000664.2:g.214932137C>T	GRCh38
NC_000002.11:g.215796861C>T , CM000664.1:g.215796861C>T	GRCh37
NC_000002.10:g.215505106C>T	NCBI36
NG_007074.1:g.211291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*497G>A (ABCA12) MANE Select	ENSP00000272895.7:n.*497G>A
ENST00000272895.11:c.*497G>A (ABCA12)	ENSP00000272895.7:n.*497G>A
NM_015657.3:c.*497G>A (ABCA12)	NP_056472.2:n.*497G>A
NM_173076.2:c.*497G>A (ABCA12)	NP_775099.2:n.*497G>A
NR_103740.1:n.8585G>A (ABCA12)
NR_110292.1:n.322-15688C>T (SNHG31)
XM_011510951.1:c.*497G>A (ABCA12)	XP_011509253.1:n.*497G>A
XM_011510951.2:c.*497G>A (ABCA12)	XP_011509253.1:n.*497G>A
NM_173076.3:c.*497G>A (ABCA12) MANE Select	NP_775099.2:n.*497G>A
NR_103740.2:n.8783G>A (ABCA12)
NM_015657.4:c.*497G>A (ABCA12)	NP_056472.2:n.*497G>A