Canonical Allele Identifier: CA387790601
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053915T>G , CM000675.2:g.33053915T>G GRCh38
NC_000013.10:g.33628052T>G , CM000675.1:g.33628052T>G GRCh37
NC_000013.9:g.32526052T>G NCBI36
NG_011485.1:g.42482T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.968T>G MANE Select ENSP00000369442.3:p.Val323Gly
ENST00000380099.3:c.968T>G ENSP00000369442.3:p.Val323Gly
ENST00000487852.1:n.976T>G
NM_004795.3:c.968T>G NP_004786.2:p.Val323Gly
XM_006719895.1:c.47T>G XP_006719958.1:p.Val16Gly
XM_006719895.2:c.47T>G XP_006719958.1:p.Val16Gly
NM_004795.4:c.968T>G MANE Select NP_004786.2:p.Val323Gly