Canonical Allele Identifier: CA387790811
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33628138T>C (hg19) chr13:g.33054001T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33054001T>C , CM000675.2:g.33054001T>C GRCh38
NC_000013.10:g.33628138T>C , CM000675.1:g.33628138T>C GRCh37
NC_000013.9:g.32526138T>C NCBI36
NG_011485.1:g.42568T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1054T>C MANE Select ENSP00000369442.3:p.Phe352Leu
ENST00000380099.3:c.1054T>C ENSP00000369442.3:p.Phe352Leu
ENST00000487852.1:n.1062T>C
NM_004795.3:c.1054T>C NP_004786.2:p.Phe352Leu
XM_006719895.1:c.133T>C XP_006719958.1:p.Phe45Leu
XM_006719895.2:c.133T>C XP_006719958.1:p.Phe45Leu
NM_004795.4:c.1054T>C MANE Select NP_004786.2:p.Phe352Leu
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