Canonical Allele Identifier: CA2092015
Gene: ABCA12 HGNC NCBI

Linked Data

dbSNP Id: rs773190443

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011603C>T , CM000664.2:g.215011603C>T GRCh38
NC_000002.11:g.215876327C>T , CM000664.1:g.215876327C>T GRCh37
NC_000002.10:g.215584572C>T NCBI36
NG_007074.1:g.131825G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.2168G>A MANE Select ENSP00000272895.7:p.Ser723Asn
ENST00000272895.11:c.2168G>A ENSP00000272895.7:p.Ser723Asn
ENST00000389661.4:c.1214G>A ENSP00000374312.4:p.Ser405Asn
NM_015657.3:c.1214G>A NP_056472.2:p.Ser405Asn
NM_173076.2:c.2168G>A NP_775099.2:p.Ser723Asn
NR_103740.1:n.2412G>A
XM_011510951.1:c.2168G>A XP_011509253.1:p.Ser723Asn
XM_011510952.1:c.2168G>A XP_011509254.1:p.Ser723Asn
XM_011510951.2:c.2168G>A XP_011509253.1:p.Ser723Asn
NM_173076.3:c.2168G>A MANE Select NP_775099.2:p.Ser723Asn
NR_103740.2:n.2610G>A
NM_015657.4:c.1214G>A NP_056472.2:p.Ser405Asn