Canonical Allele Identifier: CA1748722910
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954269G= , CM000669.2:g.142954269G= GRCh38
NC_000007.13:g.142651356G= , CM000669.1:g.142651356G= GRCh37
NC_000007.12:g.142361478G= NCBI36
NG_007492.1:g.13148C=
NG_007492.2:g.13148C=
NG_007492.3:g.13148C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355265.7:c.839C= MANE Select ENSP00000347409.2:p.Ser280=
ENST00000355265.6:c.839C= ENSP00000347409.2:p.Ser280=
ENST00000479768.6:n.957C=
NM_000420.2:c.839C= NP_000411.1:p.Ser280=
XM_005249993.2:c.875C= XP_005250050.1:p.Ser292=
XM_005249994.3:c.-109C= XP_005250051.1:n.-109C=
NM_000420.3:c.839C= MANE Select NP_000411.1:p.Ser280=