Canonical Allele Identifier: CA483442121

Gene: KL

Linked Data

• MyVariant Identifiers: chr13:g.33629299A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055162A>G , CM000675.2:g.33055162A>G	GRCh38
NC_000013.10:g.33629299A>G , CM000675.1:g.33629299A>G	GRCh37
NC_000013.9:g.32527299A>G	NCBI36
NG_011485.1:g.43729A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1446A>G MANE Select	ENSP00000369442.3:p.Leu482=
ENST00000380099.3:c.1446A>G	ENSP00000369442.3:p.Leu482=
ENST00000487852.1:n.1454A>G
NM_004795.3:c.1446A>G	NP_004786.2:p.Leu482=
XM_006719895.1:c.525A>G	XP_006719958.1:p.Leu175=
XM_006719895.2:c.525A>G	XP_006719958.1:p.Leu175=
NM_004795.4:c.1446A>G MANE Select	NP_004786.2:p.Leu482=