Canonical Allele Identifier: CA483442181

Gene: KL

Linked Data

• MyVariant Identifiers: chr13:g.33629320G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055183G>A , CM000675.2:g.33055183G>A	GRCh38
NC_000013.10:g.33629320G>A , CM000675.1:g.33629320G>A	GRCh37
NC_000013.9:g.32527320G>A	NCBI36
NG_011485.1:g.43750G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1467G>A MANE Select	ENSP00000369442.3:p.Leu489=
ENST00000380099.3:c.1467G>A	ENSP00000369442.3:p.Leu489=
ENST00000487852.1:n.1475G>A
NM_004795.3:c.1467G>A	NP_004786.2:p.Leu489=
XM_006719895.1:c.546G>A	XP_006719958.1:p.Leu182=
XM_006719895.2:c.546G>A	XP_006719958.1:p.Leu182=
NM_004795.4:c.1467G>A MANE Select	NP_004786.2:p.Leu489=