Canonical Allele Identifier: CA1327177494
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019555T= , CM000664.2:g.215019555T= GRCh38
NC_000002.11:g.215884279T= , CM000664.1:g.215884279T= GRCh37
NC_000002.10:g.215592524T= NCBI36
NG_007074.1:g.123873A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1529A= MANE Select ENSP00000272895.7:p.Asn510=
ENST00000272895.11:c.1529A= ENSP00000272895.7:p.Asn510=
ENST00000389661.4:c.575A= ENSP00000374312.4:p.Asn192=
NM_015657.3:c.575A= NP_056472.2:p.Asn192=
NM_173076.2:c.1529A= NP_775099.2:p.Asn510=
NR_103740.1:n.1773A=
XM_011510951.1:c.1529A= XP_011509253.1:p.Asn510=
XM_011510952.1:c.1529A= XP_011509254.1:p.Asn510=
XM_011510951.2:c.1529A= XP_011509253.1:p.Asn510=
NM_173076.3:c.1529A= MANE Select NP_775099.2:p.Asn510=
NR_103740.2:n.1971A=
NM_015657.4:c.575A= NP_056472.2:p.Asn192=