Canonical Allele Identifier: CA2754208583
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932491T>A , CM000664.2:g.214932491T>A GRCh38
NC_000002.11:g.215797215T>A , CM000664.1:g.215797215T>A GRCh37
NC_000002.10:g.215505460T>A NCBI36
NG_007074.1:g.210937A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.*143A>T (ABCA12) MANE Select ENSP00000272895.7:n.*143A>T
ENST00000272895.11:c.*143A>T (ABCA12) ENSP00000272895.7:n.*143A>T
NM_015657.3:c.*143A>T (ABCA12) NP_056472.2:n.*143A>T
NM_173076.2:c.*143A>T (ABCA12) NP_775099.2:n.*143A>T
NR_103740.1:n.8231A>T (ABCA12)
NR_110292.1:n.322-15334T>A (SNHG31)
XM_011510951.1:c.*143A>T (ABCA12) XP_011509253.1:n.*143A>T
XM_011510951.2:c.*143A>T (ABCA12) XP_011509253.1:n.*143A>T
NM_173076.3:c.*143A>T (ABCA12) MANE Select NP_775099.2:n.*143A>T
NR_103740.2:n.8429A>T (ABCA12)
NM_015657.4:c.*143A>T (ABCA12) NP_056472.2:n.*143A>T