Canonical Allele Identifier: CA609108946

Gene: KL

Linked Data

• dbSNP Id: rs1290148032
• gnomAD v2: 13-33629683-T-C
• gnomAD v3: 13-33055546-T-C
• gnomAD v4: 13-33055546-T-C
• MyVariant Identifiers: chr13:g.33629683T>C (hg19) ; chr13:g.33055546T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.33055546T>C , CM000675.2:g.33055546T>C	GRCh38
NC_000013.10:g.33629683T>C , CM000675.1:g.33629683T>C	GRCh37
NC_000013.9:g.32527683T>C	NCBI36
NG_011485.1:g.44113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380099.4:c.1599+231T>C MANE Select	ENSP00000369442.3:n.1599+231T>C
ENST00000380099.3:c.1599+231T>C	ENSP00000369442.3:n.1599+231T>C
ENST00000487852.1:n.1657+181T>C
NM_004795.3:c.1599+231T>C	NP_004786.2:n.1599+231T>C
XM_006719895.1:c.678+231T>C	XP_006719958.1:n.678+231T>C
XM_006719895.2:c.678+231T>C	XP_006719958.1:n.678+231T>C
NM_004795.4:c.1599+231T>C MANE Select	NP_004786.2:n.1599+231T>C