Canonical Allele Identifier: CA2591024184
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs2138234975
gnomAD v3: 13-33055503-T-C
gnomAD v4: 13-33055503-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055503T>C , CM000675.2:g.33055503T>C GRCh38
NC_000013.10:g.33629640T>C , CM000675.1:g.33629640T>C GRCh37
NC_000013.9:g.32527640T>C NCBI36
NG_011485.1:g.44070T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+188T>C MANE Select ENSP00000369442.3:n.1599+188T>C
ENST00000380099.3:c.1599+188T>C ENSP00000369442.3:n.1599+188T>C
ENST00000487852.1:n.1657+138T>C
NM_004795.3:c.1599+188T>C NP_004786.2:n.1599+188T>C
XM_006719895.1:c.678+188T>C XP_006719958.1:n.678+188T>C
XM_006719895.2:c.678+188T>C XP_006719958.1:n.678+188T>C
NM_004795.4:c.1599+188T>C MANE Select NP_004786.2:n.1599+188T>C
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