Canonical Allele Identifier: CA387790611
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053920G>C , CM000675.2:g.33053920G>C GRCh38
NC_000013.10:g.33628057G>C , CM000675.1:g.33628057G>C GRCh37
NC_000013.9:g.32526057G>C NCBI36
NG_011485.1:g.42487G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.973G>C MANE Select ENSP00000369442.3:p.Gly325Arg
ENST00000380099.3:c.973G>C ENSP00000369442.3:p.Gly325Arg
ENST00000487852.1:n.981G>C
NM_004795.3:c.973G>C NP_004786.2:p.Gly325Arg
XM_006719895.1:c.52G>C XP_006719958.1:p.Gly18Arg
XM_006719895.2:c.52G>C XP_006719958.1:p.Gly18Arg
NM_004795.4:c.973G>C MANE Select NP_004786.2:p.Gly325Arg