Canonical Allele Identifier: CA387790861
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33628159T>G (hg19) chr13:g.33054022T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33054022T>G , CM000675.2:g.33054022T>G GRCh38
NC_000013.10:g.33628159T>G , CM000675.1:g.33628159T>G GRCh37
NC_000013.9:g.32526159T>G NCBI36
NG_011485.1:g.42589T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.1075T>G MANE Select ENSP00000369442.3:p.Phe359Val
ENST00000380099.3:c.1075T>G ENSP00000369442.3:p.Phe359Val
ENST00000487852.1:n.1083T>G
NM_004795.3:c.1075T>G NP_004786.2:p.Phe359Val
XM_006719895.1:c.154T>G XP_006719958.1:p.Phe52Val
XM_006719895.2:c.154T>G XP_006719958.1:p.Phe52Val
NM_004795.4:c.1075T>G MANE Select NP_004786.2:p.Phe359Val
Search 100 bp 5'
Search 100 bp 3'