Canonical Allele Identifier: CA387792371
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33629279C>A (hg19) chr13:g.33055142C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055142C>A , CM000675.2:g.33055142C>A GRCh38
NC_000013.10:g.33629279C>A , CM000675.1:g.33629279C>A GRCh37
NC_000013.9:g.32527279C>A NCBI36
NG_011485.1:g.43709C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1426C>A MANE Select ENSP00000369442.3:p.Leu476Ile
ENST00000380099.3:c.1426C>A ENSP00000369442.3:p.Leu476Ile
ENST00000487852.1:n.1434C>A
NM_004795.3:c.1426C>A NP_004786.2:p.Leu476Ile
XM_006719895.1:c.505C>A XP_006719958.1:p.Leu169Ile
XM_006719895.2:c.505C>A XP_006719958.1:p.Leu169Ile
NM_004795.4:c.1426C>A MANE Select NP_004786.2:p.Leu476Ile
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