Canonical Allele Identifier: CA387790631
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33628064T>A (hg19) chr13:g.33053927T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053927T>A , CM000675.2:g.33053927T>A GRCh38
NC_000013.10:g.33628064T>A , CM000675.1:g.33628064T>A GRCh37
NC_000013.9:g.32526064T>A NCBI36
NG_011485.1:g.42494T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.980T>A MANE Select ENSP00000369442.3:p.Phe327Tyr
ENST00000380099.3:c.980T>A ENSP00000369442.3:p.Phe327Tyr
ENST00000487852.1:n.988T>A
NM_004795.3:c.980T>A NP_004786.2:p.Phe327Tyr
XM_006719895.1:c.59T>A XP_006719958.1:p.Phe20Tyr
XM_006719895.2:c.59T>A XP_006719958.1:p.Phe20Tyr
NM_004795.4:c.980T>A MANE Select NP_004786.2:p.Phe327Tyr
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