Canonical Allele Identifier: CA2591023828
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs2138193599
gnomAD v3: 13-33024790-A-T
gnomAD v4: 13-33024790-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33024790A>T , CM000675.2:g.33024790A>T GRCh38
NC_000013.10:g.33598928A>T , CM000675.1:g.33598928A>T GRCh37
NC_000013.9:g.32496928A>T NCBI36
NG_011485.1:g.13358A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.819+7531A>T MANE Select ENSP00000369442.3:n.819+7531A>T
ENST00000380099.3:c.819+7531A>T ENSP00000369442.3:n.819+7531A>T
ENST00000487852.1:n.827+7531A>T
NM_004795.3:c.819+7531A>T NP_004786.2:n.819+7531A>T
XM_006719895.1:c.-103+8477A>T XP_006719958.1:n.-103+8477A>T
XM_006719895.2:c.-103+8477A>T XP_006719958.1:n.-103+8477A>T
NM_004795.4:c.819+7531A>T MANE Select NP_004786.2:n.819+7531A>T
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