Canonical Allele Identifier: CA369631208

Gene: KEL

Linked Data

• MyVariant Identifiers: chr7:g.142655027A>T (hg19) ; chr7:g.142957940A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957940A>T , CM000669.2:g.142957940A>T	GRCh38
NC_000007.13:g.142655027A>T , CM000669.1:g.142655027A>T	GRCh37
NC_000007.12:g.142365149A>T	NCBI36
NG_007492.1:g.9477T>A
NG_007492.2:g.9477T>A
NG_007492.3:g.9477T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355265.7:c.559T>A MANE Select	ENSP00000347409.2:p.Ser187Thr
ENST00000467543.6:c.*411T>A	ENSP00000420011.2:n.*411T>A
ENST00000355265.6:c.559T>A	ENSP00000347409.2:p.Ser187Thr
ENST00000467543.5:c.502T>A	ENSP00000420011.1:p.Ser168Thr
ENST00000476829.5:c.525+364T>A	ENSP00000419889.1:n.525+364T>A
ENST00000479768.6:n.677T>A
ENST00000494148.1:n.158T>A
NM_000420.2:c.559T>A	NP_000411.1:p.Ser187Thr
XM_005249993.2:c.595T>A	XP_005250050.1:p.Ser199Thr
NM_000420.3:c.559T>A MANE Select	NP_000411.1:p.Ser187Thr