Canonical Allele Identifier: CA2622629969
Gene: KL HGNC NCBI

Linked Data

gnomAD v4: 13-33055321-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055321T>A , CM000675.2:g.33055321T>A GRCh38
NC_000013.10:g.33629458T>A , CM000675.1:g.33629458T>A GRCh37
NC_000013.9:g.32527458T>A NCBI36
NG_011485.1:g.43888T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+6T>A MANE Select ENSP00000369442.3:n.1599+6T>A
ENST00000380099.3:c.1599+6T>A ENSP00000369442.3:n.1599+6T>A
ENST00000487852.1:n.1613T>A
NM_004795.3:c.1599+6T>A NP_004786.2:n.1599+6T>A
XM_006719895.1:c.678+6T>A XP_006719958.1:n.678+6T>A
XM_006719895.2:c.678+6T>A XP_006719958.1:n.678+6T>A
NM_004795.4:c.1599+6T>A MANE Select NP_004786.2:n.1599+6T>A
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