Canonical Allele Identifier: CA247515646
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs116015227
gnomAD v2: 13-33610687-C-T
gnomAD v3: 13-33036550-C-T
gnomAD v4: 13-33036550-C-T
MyVariant Identifiers: chr13:g.33610687C>T (hg19) chr13:g.33036550C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33036550C>T , CM000675.2:g.33036550C>T GRCh38
NC_000013.10:g.33610687C>T , CM000675.1:g.33610687C>T GRCh37
NC_000013.9:g.32508687C>T NCBI36
NG_011485.1:g.25117C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.820-17217C>T MANE Select ENSP00000369442.3:n.820-17217C>T
ENST00000380099.3:c.820-17217C>T ENSP00000369442.3:n.820-17217C>T
ENST00000487852.1:n.828-17217C>T
NM_004795.3:c.820-17217C>T NP_004786.2:n.820-17217C>T
XM_006719895.1:c.-102-17217C>T XP_006719958.1:n.-102-17217C>T
XM_006719895.2:c.-102-17217C>T XP_006719958.1:n.-102-17217C>T
NM_004795.4:c.820-17217C>T MANE Select NP_004786.2:n.820-17217C>T
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