Canonical Allele Identifier: CA1042202770

Gene: ABCA12 SNHG31

Linked Data

• dbSNP Id: rs1698077263
• gnomAD v3: 2-214932134-G-A
• gnomAD v4: 2-214932134-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.214932134G>A , CM000664.2:g.214932134G>A	GRCh38
NC_000002.11:g.215796858G>A , CM000664.1:g.215796858G>A	GRCh37
NC_000002.10:g.215505103G>A	NCBI36
NG_007074.1:g.211294C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272895.12:c.*500C>T (ABCA12) MANE Select	ENSP00000272895.7:n.*500C>T
ENST00000272895.11:c.*500C>T (ABCA12)	ENSP00000272895.7:n.*500C>T
NM_015657.3:c.*500C>T (ABCA12)	NP_056472.2:n.*500C>T
NM_173076.2:c.*500C>T (ABCA12)	NP_775099.2:n.*500C>T
NR_103740.1:n.8588C>T (ABCA12)
NR_110292.1:n.322-15691G>A (SNHG31)
XM_011510951.1:c.*500C>T (ABCA12)	XP_011509253.1:n.*500C>T
XM_011510951.2:c.*500C>T (ABCA12)	XP_011509253.1:n.*500C>T
NM_173076.3:c.*500C>T (ABCA12) MANE Select	NP_775099.2:n.*500C>T
NR_103740.2:n.8786C>T (ABCA12)
NM_015657.4:c.*500C>T (ABCA12)	NP_056472.2:n.*500C>T