Canonical Allele Identifier: CA2798738009
Gene: KL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055586C>T , CM000675.2:g.33055586C>T GRCh38
NC_000013.10:g.33629723C>T , CM000675.1:g.33629723C>T GRCh37
NC_000013.9:g.32527723C>T NCBI36
NG_011485.1:g.44153C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+271C>T MANE Select ENSP00000369442.3:n.1599+271C>T
ENST00000380099.3:c.1599+271C>T ENSP00000369442.3:n.1599+271C>T
ENST00000487852.1:n.1657+221C>T
NM_004795.3:c.1599+271C>T NP_004786.2:n.1599+271C>T
XM_006719895.1:c.678+271C>T XP_006719958.1:n.678+271C>T
XM_006719895.2:c.678+271C>T XP_006719958.1:n.678+271C>T
NM_004795.4:c.1599+271C>T MANE Select NP_004786.2:n.1599+271C>T