Canonical Allele Identifier: CA247528360

Gene: KL

Linked Data

• dbSNP Id: rs1000908514
• MyVariant Identifiers: chr13:g.33628057G>T (hg19) ; chr13:g.33053920G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33053920G>T , CM000675.2:g.33053920G>T	GRCh38
NC_000013.10:g.33628057G>T , CM000675.1:g.33628057G>T	GRCh37
NC_000013.9:g.32526057G>T	NCBI36
NG_011485.1:g.42487G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000380099.4:c.973G>T MANE Select	ENSP00000369442.3:p.Gly325Cys
ENST00000380099.3:c.973G>T	ENSP00000369442.3:p.Gly325Cys
ENST00000487852.1:n.981G>T
NM_004795.3:c.973G>T	NP_004786.2:p.Gly325Cys
XM_006719895.1:c.52G>T	XP_006719958.1:p.Gly18Cys
XM_006719895.2:c.52G>T	XP_006719958.1:p.Gly18Cys
NM_004795.4:c.973G>T MANE Select	NP_004786.2:p.Gly325Cys