Canonical Allele Identifier: CA483442246

Gene: KL

Linked Data

• MyVariant Identifiers: chr13:g.33629347A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055210A>G , CM000675.2:g.33055210A>G	GRCh38
NC_000013.10:g.33629347A>G , CM000675.1:g.33629347A>G	GRCh37
NC_000013.9:g.32527347A>G	NCBI36
NG_011485.1:g.43777A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1494A>G MANE Select	ENSP00000369442.3:p.Gln498=
ENST00000380099.3:c.1494A>G	ENSP00000369442.3:p.Gln498=
ENST00000487852.1:n.1502A>G
NM_004795.3:c.1494A>G	NP_004786.2:p.Gln498=
XM_006719895.1:c.573A>G	XP_006719958.1:p.Gln191=
XM_006719895.2:c.573A>G	XP_006719958.1:p.Gln191=
NM_004795.4:c.1494A>G MANE Select	NP_004786.2:p.Gln498=