Canonical Allele Identifier: CA483442321

Gene: KL

Linked Data

• dbSNP Id: rs1593808142
• MyVariant Identifiers: chr13:g.33629371C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055234C>T , CM000675.2:g.33055234C>T	GRCh38
NC_000013.10:g.33629371C>T , CM000675.1:g.33629371C>T	GRCh37
NC_000013.9:g.32527371C>T	NCBI36
NG_011485.1:g.43801C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1518C>T MANE Select	ENSP00000369442.3:p.Phe506=
ENST00000380099.3:c.1518C>T	ENSP00000369442.3:p.Phe506=
ENST00000487852.1:n.1526C>T
NM_004795.3:c.1518C>T	NP_004786.2:p.Phe506=
XM_006719895.1:c.597C>T	XP_006719958.1:p.Phe199=
XM_006719895.2:c.597C>T	XP_006719958.1:p.Phe199=
NM_004795.4:c.1518C>T MANE Select	NP_004786.2:p.Phe506=