Canonical Allele Identifier: CA387792386

Gene: KL

Linked Data

• dbSNP Id: rs1871909542
• MyVariant Identifiers: chr13:g.33629282T>G (hg19) ; chr13:g.33055145T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055145T>G , CM000675.2:g.33055145T>G	GRCh38
NC_000013.10:g.33629282T>G , CM000675.1:g.33629282T>G	GRCh37
NC_000013.9:g.32527282T>G	NCBI36
NG_011485.1:g.43712T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1429T>G MANE Select	ENSP00000369442.3:p.Phe477Val
ENST00000380099.3:c.1429T>G	ENSP00000369442.3:p.Phe477Val
ENST00000487852.1:n.1437T>G
NM_004795.3:c.1429T>G	NP_004786.2:p.Phe477Val
XM_006719895.1:c.508T>G	XP_006719958.1:p.Phe170Val
XM_006719895.2:c.508T>G	XP_006719958.1:p.Phe170Val
NM_004795.4:c.1429T>G MANE Select	NP_004786.2:p.Phe477Val