Canonical Allele Identifier: CA387790676
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33628080T>A (hg19) chr13:g.33053943T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053943T>A , CM000675.2:g.33053943T>A GRCh38
NC_000013.10:g.33628080T>A , CM000675.1:g.33628080T>A GRCh37
NC_000013.9:g.32526080T>A NCBI36
NG_011485.1:g.42510T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.996T>A MANE Select ENSP00000369442.3:p.Phe332Leu
ENST00000380099.3:c.996T>A ENSP00000369442.3:p.Phe332Leu
ENST00000487852.1:n.1004T>A
NM_004795.3:c.996T>A NP_004786.2:p.Phe332Leu
XM_006719895.1:c.75T>A XP_006719958.1:p.Phe25Leu
XM_006719895.2:c.75T>A XP_006719958.1:p.Phe25Leu
NM_004795.4:c.996T>A MANE Select NP_004786.2:p.Phe332Leu
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