Canonical Allele Identifier: CA387790801
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053996C>G , CM000675.2:g.33053996C>G GRCh38
NC_000013.10:g.33628133C>G , CM000675.1:g.33628133C>G GRCh37
NC_000013.9:g.32526133C>G NCBI36
NG_011485.1:g.42563C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1049C>G MANE Select ENSP00000369442.3:p.Pro350Arg
ENST00000380099.3:c.1049C>G ENSP00000369442.3:p.Pro350Arg
ENST00000487852.1:n.1057C>G
NM_004795.3:c.1049C>G NP_004786.2:p.Pro350Arg
XM_006719895.1:c.128C>G XP_006719958.1:p.Pro43Arg
XM_006719895.2:c.128C>G XP_006719958.1:p.Pro43Arg
NM_004795.4:c.1049C>G MANE Select NP_004786.2:p.Pro350Arg