Canonical Allele Identifier: CA2548127172

Gene: KEL

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957746T>A , CM000669.2:g.142957746T>A	GRCh38
NC_000007.13:g.142654833T>A , CM000669.1:g.142654833T>A	GRCh37
NC_000007.12:g.142364955T>A	NCBI36
NG_007492.1:g.9671A>T
NG_007492.2:g.9671A>T
NG_007492.3:g.9671A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.672+81A>T MANE Select	ENSP00000347409.2:n.672+81A>T
ENST00000355265.6:c.672+81A>T	ENSP00000347409.2:n.672+81A>T
ENST00000476829.5:c.525+558A>T	ENSP00000419889.1:n.525+558A>T
ENST00000479768.6:n.790+81A>T
ENST00000494148.1:n.271+81A>T
NM_000420.2:c.672+81A>T	NP_000411.1:n.672+81A>T
XM_005249993.2:c.708+81A>T	XP_005250050.1:n.708+81A>T
NM_000420.3:c.672+81A>T MANE Select	NP_000411.1:n.672+81A>T