Canonical Allele Identifier: CA483441644
Gene: KL HGNC NCBI

Linked Data

ClinVar Variation Id: 3012512
ClinVar RCV Id: RCV003875639
gnomAD v4: 13-33053916-A-G
MyVariant Identifiers: chr13:g.33628053A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053916A>G , CM000675.2:g.33053916A>G GRCh38
NC_000013.10:g.33628053A>G , CM000675.1:g.33628053A>G GRCh37
NC_000013.9:g.32526053A>G NCBI36
NG_011485.1:g.42483A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.969A>G MANE Select ENSP00000369442.3:p.Val323=
ENST00000380099.3:c.969A>G ENSP00000369442.3:p.Val323=
ENST00000487852.1:n.977A>G
NM_004795.3:c.969A>G NP_004786.2:p.Val323=
XM_006719895.1:c.48A>G XP_006719958.1:p.Val16=
XM_006719895.2:c.48A>G XP_006719958.1:p.Val16=
NM_004795.4:c.969A>G MANE Select NP_004786.2:p.Val323=
Search 100 bp 5'
Search 100 bp 3'