Canonical Allele Identifier: CA1748724503

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957938G= , CM000669.2:g.142957938G=	GRCh38
NC_000007.13:g.142655025G= , CM000669.1:g.142655025G=	GRCh37
NC_000007.12:g.142365147G=	NCBI36
NG_007492.1:g.9479C=
NG_007492.2:g.9479C=
NG_007492.3:g.9479C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.561C= MANE Select	ENSP00000347409.2:p.Ser187=
ENST00000467543.6:c.*413C=	ENSP00000420011.2:n.*413C=
ENST00000355265.6:c.561C=	ENSP00000347409.2:p.Ser187=
ENST00000467543.5:c.504C=	ENSP00000420011.1:p.Ser168=
ENST00000476829.5:c.525+366C=	ENSP00000419889.1:n.525+366C=
ENST00000479768.6:n.679C=
ENST00000494148.1:n.160C=
NM_000420.2:c.561C=	NP_000411.1:p.Ser187=
XM_005249993.2:c.597C=	XP_005250050.1:p.Ser199=
NM_000420.3:c.561C= MANE Select	NP_000411.1:p.Ser187=