Canonical Allele Identifier: CA1042202735

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1047361893
• gnomAD v3: 2-214932067-T-G
• gnomAD v4: 2-214932067-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932067T>G , CM000664.2:g.214932067T>G	GRCh38
NC_000002.11:g.215796791T>G , CM000664.1:g.215796791T>G	GRCh37
NC_000002.10:g.215505036T>G	NCBI36
NG_007074.1:g.211361A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*567A>C (ABCA12) MANE Select	ENSP00000272895.7:n.*567A>C
ENST00000272895.11:c.*567A>C (ABCA12)	ENSP00000272895.7:n.*567A>C
NM_015657.3:c.*567A>C (ABCA12)	NP_056472.2:n.*567A>C
NM_173076.2:c.*567A>C (ABCA12)	NP_775099.2:n.*567A>C
NR_103740.1:n.8655A>C (ABCA12)
NR_110292.1:n.322-15758T>G (SNHG31)
XM_011510951.1:c.*567A>C (ABCA12)	XP_011509253.1:n.*567A>C
XM_011510951.2:c.*567A>C (ABCA12)	XP_011509253.1:n.*567A>C
NM_173076.3:c.*567A>C (ABCA12) MANE Select	NP_775099.2:n.*567A>C
NR_103740.2:n.8853A>C (ABCA12)
NM_015657.4:c.*567A>C (ABCA12)	NP_056472.2:n.*567A>C