Canonical Allele Identifier: CA247529259

Gene: KL

Linked Data

• dbSNP Id: rs957349454
• MyVariant Identifiers: chr13:g.33629781A>G (hg19) ; chr13:g.33055644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055644A>G , CM000675.2:g.33055644A>G	GRCh38
NC_000013.10:g.33629781A>G , CM000675.1:g.33629781A>G	GRCh37
NC_000013.9:g.32527781A>G	NCBI36
NG_011485.1:g.44211A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1599+329A>G MANE Select	ENSP00000369442.3:n.1599+329A>G
ENST00000380099.3:c.1599+329A>G	ENSP00000369442.3:n.1599+329A>G
ENST00000487852.1:n.1657+279A>G
NM_004795.3:c.1599+329A>G	NP_004786.2:n.1599+329A>G
XM_006719895.1:c.678+329A>G	XP_006719958.1:n.678+329A>G
XM_006719895.2:c.678+329A>G	XP_006719958.1:n.678+329A>G
NM_004795.4:c.1599+329A>G MANE Select	NP_004786.2:n.1599+329A>G