Canonical Allele Identifier: CA387792685
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055247G>T , CM000675.2:g.33055247G>T GRCh38
NC_000013.10:g.33629384G>T , CM000675.1:g.33629384G>T GRCh37
NC_000013.9:g.32527384G>T NCBI36
NG_011485.1:g.43814G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1531G>T MANE Select ENSP00000369442.3:p.Glu511Ter
ENST00000380099.3:c.1531G>T ENSP00000369442.3:p.Glu511Ter
ENST00000487852.1:n.1539G>T
NM_004795.3:c.1531G>T NP_004786.2:p.Glu511Ter
XM_006719895.1:c.610G>T XP_006719958.1:p.Glu204Ter
XM_006719895.2:c.610G>T XP_006719958.1:p.Glu204Ter
NM_004795.4:c.1531G>T MANE Select NP_004786.2:p.Glu511Ter