Canonical Allele Identifier: CA387790551
Gene: KL HGNC NCBI

Linked Data

gnomAD v4: 13-33053905-C-A
MyVariant Identifiers: chr13:g.33628042C>A (hg19) chr13:g.33053905C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053905C>A , CM000675.2:g.33053905C>A GRCh38
NC_000013.10:g.33628042C>A , CM000675.1:g.33628042C>A GRCh37
NC_000013.9:g.32526042C>A NCBI36
NG_011485.1:g.42472C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.958C>A MANE Select ENSP00000369442.3:p.Leu320Met
ENST00000380099.3:c.958C>A ENSP00000369442.3:p.Leu320Met
ENST00000487852.1:n.966C>A
NM_004795.3:c.958C>A NP_004786.2:p.Leu320Met
XM_006719895.1:c.37C>A XP_006719958.1:p.Leu13Met
XM_006719895.2:c.37C>A XP_006719958.1:p.Leu13Met
NM_004795.4:c.958C>A MANE Select NP_004786.2:p.Leu320Met
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