Canonical Allele Identifier: CA1327177551
Gene: ABCA12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.215019695C= , CM000664.2:g.215019695C= GRCh38
NC_000002.11:g.215884419C= , CM000664.1:g.215884419C= GRCh37
NC_000002.10:g.215592664C= NCBI36
NG_007074.1:g.123733G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000272895.12:c.1389G= MANE Select ENSP00000272895.7:p.Leu463=
ENST00000272895.11:c.1389G= ENSP00000272895.7:p.Leu463=
ENST00000389661.4:c.435G= ENSP00000374312.4:p.Leu145=
NM_015657.3:c.435G= NP_056472.2:p.Leu145=
NM_173076.2:c.1389G= NP_775099.2:p.Leu463=
NR_103740.1:n.1633G=
XM_011510951.1:c.1389G= XP_011509253.1:p.Leu463=
XM_011510952.1:c.1389G= XP_011509254.1:p.Leu463=
XM_011510951.2:c.1389G= XP_011509253.1:p.Leu463=
NM_173076.3:c.1389G= MANE Select NP_775099.2:p.Leu463=
NR_103740.2:n.1831G=
NM_015657.4:c.435G= NP_056472.2:p.Leu145=