Canonical Allele Identifier: CA1748722911
Gene: KEL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.142954272G= , CM000669.2:g.142954272G= GRCh38
NC_000007.13:g.142651359G= , CM000669.1:g.142651359G= GRCh37
NC_000007.12:g.142361481G= NCBI36
NG_007492.1:g.13145C=
NG_007492.2:g.13145C=
NG_007492.3:g.13145C=

Transcript Alleles

HGVS Amino-acid change
ENST00000355265.7:c.836C= MANE Select ENSP00000347409.2:p.Thr279=
ENST00000355265.6:c.836C= ENSP00000347409.2:p.Thr279=
ENST00000479768.6:n.954C=
NM_000420.2:c.836C= NP_000411.1:p.Thr279=
XM_005249993.2:c.872C= XP_005250050.1:p.Thr291=
XM_005249994.3:c.-112C= XP_005250051.1:n.-112C=
NM_000420.3:c.836C= MANE Select NP_000411.1:p.Thr279=