Canonical Allele Identifier: CA1327174145
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215011567G= , CM000664.2:g.215011567G= GRCh38
NC_000002.11:g.215876291G= , CM000664.1:g.215876291G= GRCh37
NC_000002.10:g.215584536G= NCBI36
NG_007074.1:g.131861C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.2204C= MANE Select ENSP00000272895.7:p.Thr735=
ENST00000272895.11:c.2204C= ENSP00000272895.7:p.Thr735=
ENST00000389661.4:c.1250C= ENSP00000374312.4:p.Thr417=
NM_015657.3:c.1250C= NP_056472.2:p.Thr417=
NM_173076.2:c.2204C= NP_775099.2:p.Thr735=
NR_103740.1:n.2448C=
XM_011510951.1:c.2204C= XP_011509253.1:p.Thr735=
XM_011510952.1:c.2204C= XP_011509254.1:p.Thr735=
XM_011510951.2:c.2204C= XP_011509253.1:p.Thr735=
NM_173076.3:c.2204C= MANE Select NP_775099.2:p.Thr735=
NR_103740.2:n.2646C=
NM_015657.4:c.1250C= NP_056472.2:p.Thr417=