Canonical Allele Identifier: CA387792390
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33629283T>C (hg19) chr13:g.33055146T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055146T>C , CM000675.2:g.33055146T>C GRCh38
NC_000013.10:g.33629283T>C , CM000675.1:g.33629283T>C GRCh37
NC_000013.9:g.32527283T>C NCBI36
NG_011485.1:g.43713T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1430T>C MANE Select ENSP00000369442.3:p.Phe477Ser
ENST00000380099.3:c.1430T>C ENSP00000369442.3:p.Phe477Ser
ENST00000487852.1:n.1438T>C
NM_004795.3:c.1430T>C NP_004786.2:p.Phe477Ser
XM_006719895.1:c.509T>C XP_006719958.1:p.Phe170Ser
XM_006719895.2:c.509T>C XP_006719958.1:p.Phe170Ser
NM_004795.4:c.1430T>C MANE Select NP_004786.2:p.Phe477Ser
Search 100 bp 5'
Search 100 bp 3'