Canonical Allele Identifier: CA387790636
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33628065T>A (hg19) chr13:g.33053928T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053928T>A , CM000675.2:g.33053928T>A GRCh38
NC_000013.10:g.33628065T>A , CM000675.1:g.33628065T>A GRCh37
NC_000013.9:g.32526065T>A NCBI36
NG_011485.1:g.42495T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.981T>A MANE Select ENSP00000369442.3:p.Phe327Leu
ENST00000380099.3:c.981T>A ENSP00000369442.3:p.Phe327Leu
ENST00000487852.1:n.989T>A
NM_004795.3:c.981T>A NP_004786.2:p.Phe327Leu
XM_006719895.1:c.60T>A XP_006719958.1:p.Phe20Leu
XM_006719895.2:c.60T>A XP_006719958.1:p.Phe20Leu
NM_004795.4:c.981T>A MANE Select NP_004786.2:p.Phe327Leu
Search 100 bp 5'
Search 100 bp 3'