Canonical Allele Identifier: CA387790627
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33628062G>C (hg19) chr13:g.33053925G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053925G>C , CM000675.2:g.33053925G>C GRCh38
NC_000013.10:g.33628062G>C , CM000675.1:g.33628062G>C GRCh37
NC_000013.9:g.32526062G>C NCBI36
NG_011485.1:g.42492G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.978G>C MANE Select ENSP00000369442.3:p.Trp326Cys
ENST00000380099.3:c.978G>C ENSP00000369442.3:p.Trp326Cys
ENST00000487852.1:n.986G>C
NM_004795.3:c.978G>C NP_004786.2:p.Trp326Cys
XM_006719895.1:c.57G>C XP_006719958.1:p.Trp19Cys
XM_006719895.2:c.57G>C XP_006719958.1:p.Trp19Cys
NM_004795.4:c.978G>C MANE Select NP_004786.2:p.Trp326Cys
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