Canonical Allele Identifier: CA458279093

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142654926T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957839T>G , CM000669.2:g.142957839T>G	GRCh38
NC_000007.13:g.142654926T>G , CM000669.1:g.142654926T>G	GRCh37
NC_000007.12:g.142365048T>G	NCBI36
NG_007492.1:g.9578A>C
NG_007492.2:g.9578A>C
NG_007492.3:g.9578A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355265.7:c.660A>C MANE Select	ENSP00000347409.2:p.Thr220=
ENST00000467543.6:c.*512A>C	ENSP00000420011.2:n.*512A>C
ENST00000355265.6:c.660A>C	ENSP00000347409.2:p.Thr220=
ENST00000467543.5:c.603A>C	ENSP00000420011.1:p.Thr201=
ENST00000476829.5:c.525+465A>C	ENSP00000419889.1:n.525+465A>C
ENST00000479768.6:n.778A>C
ENST00000494148.1:n.259A>C
NM_000420.2:c.660A>C	NP_000411.1:p.Thr220=
XM_005249993.2:c.696A>C	XP_005250050.1:p.Thr232=
NM_000420.3:c.660A>C MANE Select	NP_000411.1:p.Thr220=