Canonical Allele Identifier: CA2540617787
Gene: ABCA12 HGNC NCBI
SNHG31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.214932082C>G , CM000664.2:g.214932082C>G GRCh38
NC_000002.11:g.215796806C>G , CM000664.1:g.215796806C>G GRCh37
NC_000002.10:g.215505051C>G NCBI36
NG_007074.1:g.211346G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.*552G>C (ABCA12) MANE Select ENSP00000272895.7:n.*552G>C
ENST00000272895.11:c.*552G>C (ABCA12) ENSP00000272895.7:n.*552G>C
NM_015657.3:c.*552G>C (ABCA12) NP_056472.2:n.*552G>C
NM_173076.2:c.*552G>C (ABCA12) NP_775099.2:n.*552G>C
NR_103740.1:n.8640G>C (ABCA12)
NR_110292.1:n.322-15743C>G (SNHG31)
XM_011510951.1:c.*552G>C (ABCA12) XP_011509253.1:n.*552G>C
XM_011510951.2:c.*552G>C (ABCA12) XP_011509253.1:n.*552G>C
NM_173076.3:c.*552G>C (ABCA12) MANE Select NP_775099.2:n.*552G>C
NR_103740.2:n.8838G>C (ABCA12)
NM_015657.4:c.*552G>C (ABCA12) NP_056472.2:n.*552G>C