Canonical Allele Identifier: CA2622630039
Gene: KL HGNC NCBI

Linked Data

gnomAD v4: 13-33055483-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055483C>T , CM000675.2:g.33055483C>T GRCh38
NC_000013.10:g.33629620C>T , CM000675.1:g.33629620C>T GRCh37
NC_000013.9:g.32527620C>T NCBI36
NG_011485.1:g.44050C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+168C>T MANE Select ENSP00000369442.3:n.1599+168C>T
ENST00000380099.3:c.1599+168C>T ENSP00000369442.3:n.1599+168C>T
ENST00000487852.1:n.1657+118C>T
NM_004795.3:c.1599+168C>T NP_004786.2:n.1599+168C>T
XM_006719895.1:c.678+168C>T XP_006719958.1:n.678+168C>T
XM_006719895.2:c.678+168C>T XP_006719958.1:n.678+168C>T
NM_004795.4:c.1599+168C>T MANE Select NP_004786.2:n.1599+168C>T
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