Canonical Allele Identifier: CA483441688

Gene: KL

Linked Data

• MyVariant Identifiers: chr13:g.33628074C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33053937C>A , CM000675.2:g.33053937C>A	GRCh38
NC_000013.10:g.33628074C>A , CM000675.1:g.33628074C>A	GRCh37
NC_000013.9:g.32526074C>A	NCBI36
NG_011485.1:g.42504C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.990C>A MANE Select	ENSP00000369442.3:p.Pro330=
ENST00000380099.3:c.990C>A	ENSP00000369442.3:p.Pro330=
ENST00000487852.1:n.998C>A
NM_004795.3:c.990C>A	NP_004786.2:p.Pro330=
XM_006719895.1:c.69C>A	XP_006719958.1:p.Pro23=
XM_006719895.2:c.69C>A	XP_006719958.1:p.Pro23=
NM_004795.4:c.990C>A MANE Select	NP_004786.2:p.Pro330=