Canonical Allele Identifier: CA387790857
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33628157A>C (hg19) chr13:g.33054020A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33054020A>C , CM000675.2:g.33054020A>C GRCh38
NC_000013.10:g.33628157A>C , CM000675.1:g.33628157A>C GRCh37
NC_000013.9:g.32526157A>C NCBI36
NG_011485.1:g.42587A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.1073A>C MANE Select ENSP00000369442.3:p.Lys358Thr
ENST00000380099.3:c.1073A>C ENSP00000369442.3:p.Lys358Thr
ENST00000487852.1:n.1081A>C
NM_004795.3:c.1073A>C NP_004786.2:p.Lys358Thr
XM_006719895.1:c.152A>C XP_006719958.1:p.Lys51Thr
XM_006719895.2:c.152A>C XP_006719958.1:p.Lys51Thr
NM_004795.4:c.1073A>C MANE Select NP_004786.2:p.Lys358Thr
Search 100 bp 5'
Search 100 bp 3'