Canonical Allele Identifier: CA2083136023
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1593808499

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055646C>T , CM000675.2:g.33055646C>T GRCh38
NC_000013.10:g.33629783C>T , CM000675.1:g.33629783C>T GRCh37
NC_000013.9:g.32527783C>T NCBI36
NG_011485.1:g.44213C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+331C>T MANE Select ENSP00000369442.3:n.1599+331C>T
ENST00000380099.3:c.1599+331C>T ENSP00000369442.3:n.1599+331C>T
ENST00000487852.1:n.1657+281C>T
NM_004795.3:c.1599+331C>T NP_004786.2:n.1599+331C>T
XM_006719895.1:c.678+331C>T XP_006719958.1:n.678+331C>T
XM_006719895.2:c.678+331C>T XP_006719958.1:n.678+331C>T
NM_004795.4:c.1599+331C>T MANE Select NP_004786.2:n.1599+331C>T