Canonical Allele Identifier: CA369631079

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655009T>C (hg19) ; chr7:g.142957922T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957922T>C , CM000669.2:g.142957922T>C	GRCh38
NC_000007.13:g.142655009T>C , CM000669.1:g.142655009T>C	GRCh37
NC_000007.12:g.142365131T>C	NCBI36
NG_007492.1:g.9495A>G
NG_007492.2:g.9495A>G
NG_007492.3:g.9495A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355265.7:c.577A>G MANE Select	ENSP00000347409.2:p.Thr193Ala
ENST00000467543.6:c.*429A>G	ENSP00000420011.2:n.*429A>G
ENST00000355265.6:c.577A>G	ENSP00000347409.2:p.Thr193Ala
ENST00000467543.5:c.520A>G	ENSP00000420011.1:p.Thr174Ala
ENST00000476829.5:c.525+382A>G	ENSP00000419889.1:n.525+382A>G
ENST00000479768.6:n.695A>G
ENST00000494148.1:n.176A>G
NM_000420.2:c.577A>G	NP_000411.1:p.Thr193Ala
XM_005249993.2:c.613A>G	XP_005250050.1:p.Thr205Ala
NM_000420.3:c.577A>G MANE Select	NP_000411.1:p.Thr193Ala