Canonical Allele Identifier: CA697434031

Gene: KL

Linked Data

• dbSNP Id: rs1245157108
• gnomAD v3: 13-33024773-G-A
• gnomAD v4: 13-33024773-G-A
• MyVariant Identifiers: chr13:g.33598911G>A (hg19) ; chr13:g.33024773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33024773G>A , CM000675.2:g.33024773G>A	GRCh38
NC_000013.10:g.33598911G>A , CM000675.1:g.33598911G>A	GRCh37
NC_000013.9:g.32496911G>A	NCBI36
NG_011485.1:g.13341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.819+7514G>A MANE Select	ENSP00000369442.3:n.819+7514G>A
ENST00000380099.3:c.819+7514G>A	ENSP00000369442.3:n.819+7514G>A
ENST00000487852.1:n.827+7514G>A
NM_004795.3:c.819+7514G>A	NP_004786.2:n.819+7514G>A
XM_006719895.1:c.-103+8460G>A	XP_006719958.1:n.-103+8460G>A
XM_006719895.2:c.-103+8460G>A	XP_006719958.1:n.-103+8460G>A
NM_004795.4:c.819+7514G>A MANE Select	NP_004786.2:n.819+7514G>A