Canonical Allele Identifier: CA697433996

Gene: KL

Linked Data

• dbSNP Id: rs1172806667
• gnomAD v3: 13-33024753-G-T
• gnomAD v4: 13-33024753-G-T
• MyVariant Identifiers: chr13:g.33598891G>T (hg19) ; chr13:g.33024753G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33024753G>T , CM000675.2:g.33024753G>T	GRCh38
NC_000013.10:g.33598891G>T , CM000675.1:g.33598891G>T	GRCh37
NC_000013.9:g.32496891G>T	NCBI36
NG_011485.1:g.13321G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.819+7494G>T MANE Select	ENSP00000369442.3:n.819+7494G>T
ENST00000380099.3:c.819+7494G>T	ENSP00000369442.3:n.819+7494G>T
ENST00000487852.1:n.827+7494G>T
NM_004795.3:c.819+7494G>T	NP_004786.2:n.819+7494G>T
XM_006719895.1:c.-103+8440G>T	XP_006719958.1:n.-103+8440G>T
XM_006719895.2:c.-103+8440G>T	XP_006719958.1:n.-103+8440G>T
NM_004795.4:c.819+7494G>T MANE Select	NP_004786.2:n.819+7494G>T