Canonical Allele Identifier: CA1042202970

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1698099496
• gnomAD v3: 2-214932759-A-G
• gnomAD v4: 2-214932759-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932759A>G , CM000664.2:g.214932759A>G	GRCh38
NC_000002.11:g.215797483A>G , CM000664.1:g.215797483A>G	GRCh37
NC_000002.10:g.215505728A>G	NCBI36
NG_007074.1:g.210669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.7681-18T>C (ABCA12) MANE Select	ENSP00000272895.7:n.7681-18T>C
ENST00000272895.11:c.7681-18T>C (ABCA12)	ENSP00000272895.7:n.7681-18T>C
ENST00000389661.4:c.6727-18T>C (ABCA12)	ENSP00000374312.4:n.6727-18T>C
NM_015657.3:c.6727-18T>C (ABCA12)	NP_056472.2:n.6727-18T>C
NM_173076.2:c.7681-18T>C (ABCA12)	NP_775099.2:n.7681-18T>C
NR_103740.1:n.7981-18T>C (ABCA12)
NR_110292.1:n.322-15066A>G (SNHG31)
XM_011510951.1:c.7690-18T>C (ABCA12)	XP_011509253.1:n.7690-18T>C
XM_011510951.2:c.7690-18T>C (ABCA12)	XP_011509253.1:n.7690-18T>C
NM_173076.3:c.7681-18T>C (ABCA12) MANE Select	NP_775099.2:n.7681-18T>C
NR_103740.2:n.8179-18T>C (ABCA12)
NM_015657.4:c.6727-18T>C (ABCA12)	NP_056472.2:n.6727-18T>C