Canonical Allele Identifier: CA387790630
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33628063T>G (hg19) chr13:g.33053926T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053926T>G , CM000675.2:g.33053926T>G GRCh38
NC_000013.10:g.33628063T>G , CM000675.1:g.33628063T>G GRCh37
NC_000013.9:g.32526063T>G NCBI36
NG_011485.1:g.42493T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.979T>G MANE Select ENSP00000369442.3:p.Phe327Val
ENST00000380099.3:c.979T>G ENSP00000369442.3:p.Phe327Val
ENST00000487852.1:n.987T>G
NM_004795.3:c.979T>G NP_004786.2:p.Phe327Val
XM_006719895.1:c.58T>G XP_006719958.1:p.Phe20Val
XM_006719895.2:c.58T>G XP_006719958.1:p.Phe20Val
NM_004795.4:c.979T>G MANE Select NP_004786.2:p.Phe327Val
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