Canonical Allele Identifier: CA483442266

Gene: KL

Linked Data

• MyVariant Identifiers: chr13:g.33629353G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055216G>T , CM000675.2:g.33055216G>T	GRCh38
NC_000013.10:g.33629353G>T , CM000675.1:g.33629353G>T	GRCh37
NC_000013.9:g.32527353G>T	NCBI36
NG_011485.1:g.43783G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1500G>T MANE Select	ENSP00000369442.3:p.Leu500=
ENST00000380099.3:c.1500G>T	ENSP00000369442.3:p.Leu500=
ENST00000487852.1:n.1508G>T
NM_004795.3:c.1500G>T	NP_004786.2:p.Leu500=
XM_006719895.1:c.579G>T	XP_006719958.1:p.Leu193=
XM_006719895.2:c.579G>T	XP_006719958.1:p.Leu193=
NM_004795.4:c.1500G>T MANE Select	NP_004786.2:p.Leu500=