Canonical Allele Identifier: CA387790623
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053924G>C , CM000675.2:g.33053924G>C GRCh38
NC_000013.10:g.33628061G>C , CM000675.1:g.33628061G>C GRCh37
NC_000013.9:g.32526061G>C NCBI36
NG_011485.1:g.42491G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.977G>C MANE Select ENSP00000369442.3:p.Trp326Ser
ENST00000380099.3:c.977G>C ENSP00000369442.3:p.Trp326Ser
ENST00000487852.1:n.985G>C
NM_004795.3:c.977G>C NP_004786.2:p.Trp326Ser
XM_006719895.1:c.56G>C XP_006719958.1:p.Trp19Ser
XM_006719895.2:c.56G>C XP_006719958.1:p.Trp19Ser
NM_004795.4:c.977G>C MANE Select NP_004786.2:p.Trp326Ser