Canonical Allele Identifier: CA387790556
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053906T>C , CM000675.2:g.33053906T>C GRCh38
NC_000013.10:g.33628043T>C , CM000675.1:g.33628043T>C GRCh37
NC_000013.9:g.32526043T>C NCBI36
NG_011485.1:g.42473T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.959T>C MANE Select ENSP00000369442.3:p.Leu320Pro
ENST00000380099.3:c.959T>C ENSP00000369442.3:p.Leu320Pro
ENST00000487852.1:n.967T>C
NM_004795.3:c.959T>C NP_004786.2:p.Leu320Pro
XM_006719895.1:c.38T>C XP_006719958.1:p.Leu13Pro
XM_006719895.2:c.38T>C XP_006719958.1:p.Leu13Pro
NM_004795.4:c.959T>C MANE Select NP_004786.2:p.Leu320Pro