Canonical Allele Identifier: CA1748724439

Gene: KEL

Linked Data

• dbSNP Id: rs1586269497

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.142957776G>A , CM000669.2:g.142957776G>A	GRCh38
NC_000007.13:g.142654863G>A , CM000669.1:g.142654863G>A	GRCh37
NC_000007.12:g.142364985G>A	NCBI36
NG_007492.1:g.9641C>T
NG_007492.2:g.9641C>T
NG_007492.3:g.9641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355265.7:c.672+51C>T MANE Select	ENSP00000347409.2:n.672+51C>T
ENST00000355265.6:c.672+51C>T	ENSP00000347409.2:n.672+51C>T
ENST00000476829.5:c.525+528C>T	ENSP00000419889.1:n.525+528C>T
ENST00000479768.6:n.790+51C>T
ENST00000494148.1:n.271+51C>T
NM_000420.2:c.672+51C>T	NP_000411.1:n.672+51C>T
XM_005249993.2:c.708+51C>T	XP_005250050.1:n.708+51C>T
NM_000420.3:c.672+51C>T MANE Select	NP_000411.1:n.672+51C>T