Canonical Allele Identifier: CA387792353

Gene: KL

Linked Data

• MyVariant Identifiers: chr13:g.33629273C>G (hg19) ; chr13:g.33055136C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055136C>G , CM000675.2:g.33055136C>G	GRCh38
NC_000013.10:g.33629273C>G , CM000675.1:g.33629273C>G	GRCh37
NC_000013.9:g.32527273C>G	NCBI36
NG_011485.1:g.43703C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1420C>G MANE Select	ENSP00000369442.3:p.Arg474Gly
ENST00000380099.3:c.1420C>G	ENSP00000369442.3:p.Arg474Gly
ENST00000487852.1:n.1428C>G
NM_004795.3:c.1420C>G	NP_004786.2:p.Arg474Gly
XM_006719895.1:c.499C>G	XP_006719958.1:p.Arg167Gly
XM_006719895.2:c.499C>G	XP_006719958.1:p.Arg167Gly
NM_004795.4:c.1420C>G MANE Select	NP_004786.2:p.Arg474Gly