Canonical Allele Identifier: CA539837702
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs1448112380

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011406G>T , CM000664.2:g.215011406G>T GRCh38
NC_000002.11:g.215876130G>T , CM000664.1:g.215876130G>T GRCh37
NC_000002.10:g.215584375G>T NCBI36
NG_007074.1:g.132022C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000272895.12:c.2332+33C>A MANE Select ENSP00000272895.7:n.2332+33C>A
ENST00000272895.11:c.2332+33C>A ENSP00000272895.7:n.2332+33C>A
ENST00000389661.4:c.1378+33C>A ENSP00000374312.4:n.1378+33C>A
NM_015657.3:c.1378+33C>A NP_056472.2:n.1378+33C>A
NM_173076.2:c.2332+33C>A NP_775099.2:n.2332+33C>A
NR_103740.1:n.2576+33C>A
XM_011510951.1:c.2332+33C>A XP_011509253.1:n.2332+33C>A
XM_011510952.1:c.2332+33C>A XP_011509254.1:n.2332+33C>A
XM_011510951.2:c.2332+33C>A XP_011509253.1:n.2332+33C>A
NM_173076.3:c.2332+33C>A MANE Select NP_775099.2:n.2332+33C>A
NR_103740.2:n.2774+33C>A
NM_015657.4:c.1378+33C>A NP_056472.2:n.1378+33C>A