Canonical Allele Identifier: CA2622629990
Gene: KL HGNC NCBI

Linked Data

gnomAD v4: 13-33055410-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055410C>T , CM000675.2:g.33055410C>T GRCh38
NC_000013.10:g.33629547C>T , CM000675.1:g.33629547C>T GRCh37
NC_000013.9:g.32527547C>T NCBI36
NG_011485.1:g.43977C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+95C>T MANE Select ENSP00000369442.3:n.1599+95C>T
ENST00000380099.3:c.1599+95C>T ENSP00000369442.3:n.1599+95C>T
ENST00000487852.1:n.1657+45C>T
NM_004795.3:c.1599+95C>T NP_004786.2:n.1599+95C>T
XM_006719895.1:c.678+95C>T XP_006719958.1:n.678+95C>T
XM_006719895.2:c.678+95C>T XP_006719958.1:n.678+95C>T
NM_004795.4:c.1599+95C>T MANE Select NP_004786.2:n.1599+95C>T
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