Canonical Allele Identifier: CA697434032

Gene: KL

Linked Data

• dbSNP Id: rs1184292111
• gnomAD v3: 13-33024774-T-A
• gnomAD v4: 13-33024774-T-A
• MyVariant Identifiers: chr13:g.33598912T>A (hg19) ; chr13:g.33024774T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33024774T>A , CM000675.2:g.33024774T>A	GRCh38
NC_000013.10:g.33598912T>A , CM000675.1:g.33598912T>A	GRCh37
NC_000013.9:g.32496912T>A	NCBI36
NG_011485.1:g.13342T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.819+7515T>A MANE Select	ENSP00000369442.3:n.819+7515T>A
ENST00000380099.3:c.819+7515T>A	ENSP00000369442.3:n.819+7515T>A
ENST00000487852.1:n.827+7515T>A
NM_004795.3:c.819+7515T>A	NP_004786.2:n.819+7515T>A
XM_006719895.1:c.-103+8461T>A	XP_006719958.1:n.-103+8461T>A
XM_006719895.2:c.-103+8461T>A	XP_006719958.1:n.-103+8461T>A
NM_004795.4:c.819+7515T>A MANE Select	NP_004786.2:n.819+7515T>A