Canonical Allele Identifier: CA387792645
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33629373C>A (hg19) chr13:g.33055236C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055236C>A , CM000675.2:g.33055236C>A GRCh38
NC_000013.10:g.33629373C>A , CM000675.1:g.33629373C>A GRCh37
NC_000013.9:g.32527373C>A NCBI36
NG_011485.1:g.43803C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1520C>A MANE Select ENSP00000369442.3:p.Pro507His
ENST00000380099.3:c.1520C>A ENSP00000369442.3:p.Pro507His
ENST00000487852.1:n.1528C>A
NM_004795.3:c.1520C>A NP_004786.2:p.Pro507His
XM_006719895.1:c.599C>A XP_006719958.1:p.Pro200His
XM_006719895.2:c.599C>A XP_006719958.1:p.Pro200His
NM_004795.4:c.1520C>A MANE Select NP_004786.2:p.Pro507His
Search 100 bp 5'
Search 100 bp 3'