Canonical Allele Identifier: CA369631065

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957921G>T , CM000669.2:g.142957921G>T	GRCh38
NC_000007.13:g.142655008G>T , CM000669.1:g.142655008G>T	GRCh37
NC_000007.12:g.142365130G>T	NCBI36
NG_007492.1:g.9496C>A
NG_007492.2:g.9496C>A
NG_007492.3:g.9496C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000420.3:c.578C>A MANE Select	NP_000411.1:p.Thr193Lys
ENST00000355265.7:c.578C>A MANE Select	ENSP00000347409.2:p.Thr193Lys
NM_000420.2:c.578C>A	NP_000411.1:p.Thr193Lys
ENST00000355265.6:c.578C>A	ENSP00000347409.2:p.Thr193Lys
ENST00000467543.5:c.521C>A	ENSP00000420011.1:p.Thr174Lys
ENST00000467543.6:c.*430C>A	ENSP00000420011.2:n.*430C>A
ENST00000476829.5:c.525+383C>A	ENSP00000419889.1:n.525+383C>A
ENST00000479768.6:n.696C>A
ENST00000494148.1:n.177C>A
XM_005249993.2:c.614C>A	XP_005250050.1:p.Thr205Lys