Canonical Allele Identifier: CA247515315

Gene: KL

Linked Data

• dbSNP Id: rs543882195
• gnomAD v2: 13-33610098-T-G
• gnomAD v3: 13-33035961-T-G
• gnomAD v4: 13-33035961-T-G
• MyVariant Identifiers: chr13:g.33610098T>G (hg19) ; chr13:g.33035961T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33035961T>G , CM000675.2:g.33035961T>G	GRCh38
NC_000013.10:g.33610098T>G , CM000675.1:g.33610098T>G	GRCh37
NC_000013.9:g.32508098T>G	NCBI36
NG_011485.1:g.24528T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380099.4:c.820-17806T>G MANE Select	ENSP00000369442.3:n.820-17806T>G
ENST00000380099.3:c.820-17806T>G	ENSP00000369442.3:n.820-17806T>G
ENST00000487852.1:n.828-17806T>G
NM_004795.3:c.820-17806T>G	NP_004786.2:n.820-17806T>G
XM_006719895.1:c.-102-17806T>G	XP_006719958.1:n.-102-17806T>G
XM_006719895.2:c.-102-17806T>G	XP_006719958.1:n.-102-17806T>G
NM_004795.4:c.820-17806T>G MANE Select	NP_004786.2:n.820-17806T>G