Canonical Allele Identifier: CA458279161

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655025G>T (hg19)

Genomic Alleles

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

Transcript Alleles

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