Canonical Allele Identifier: CA1748724432

Gene: KEL

Linked Data

• dbSNP Id: rs1796861306

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957761A>C , CM000669.2:g.142957761A>C	GRCh38
NC_000007.13:g.142654848A>C , CM000669.1:g.142654848A>C	GRCh37
NC_000007.12:g.142364970A>C	NCBI36
NG_007492.1:g.9656T>G
NG_007492.2:g.9656T>G
NG_007492.3:g.9656T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.672+66T>G MANE Select	ENSP00000347409.2:n.672+66T>G
ENST00000355265.6:c.672+66T>G	ENSP00000347409.2:n.672+66T>G
ENST00000476829.5:c.525+543T>G	ENSP00000419889.1:n.525+543T>G
ENST00000479768.6:n.790+66T>G
ENST00000494148.1:n.271+66T>G
NM_000420.2:c.672+66T>G	NP_000411.1:n.672+66T>G
XM_005249993.2:c.708+66T>G	XP_005250050.1:n.708+66T>G
NM_000420.3:c.672+66T>G MANE Select	NP_000411.1:n.672+66T>G