Canonical Allele Identifier: CA2622630024
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055468C>A , CM000675.2:g.33055468C>A GRCh38
NC_000013.10:g.33629605C>A , CM000675.1:g.33629605C>A GRCh37
NC_000013.9:g.32527605C>A NCBI36
NG_011485.1:g.44035C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+153C>A MANE Select ENSP00000369442.3:n.1599+153C>A
ENST00000380099.3:c.1599+153C>A ENSP00000369442.3:n.1599+153C>A
ENST00000487852.1:n.1657+103C>A
NM_004795.3:c.1599+153C>A NP_004786.2:n.1599+153C>A
XM_006719895.1:c.678+153C>A XP_006719958.1:n.678+153C>A
XM_006719895.2:c.678+153C>A XP_006719958.1:n.678+153C>A
NM_004795.4:c.1599+153C>A MANE Select NP_004786.2:n.1599+153C>A