Canonical Allele Identifier: CA387789995
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1871842315
gnomAD v3: 13-33053813-C-G
gnomAD v4: 13-33053813-C-G
MyVariant Identifiers: chr13:g.33627950C>G (hg19) chr13:g.33053813C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053813C>G , CM000675.2:g.33053813C>G GRCh38
NC_000013.10:g.33627950C>G , CM000675.1:g.33627950C>G GRCh37
NC_000013.9:g.32525950C>G NCBI36
NG_011485.1:g.42380C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.866C>G MANE Select ENSP00000369442.3:p.Thr289Ser
ENST00000380099.3:c.866C>G ENSP00000369442.3:p.Thr289Ser
ENST00000487852.1:n.874C>G
NM_004795.3:c.866C>G NP_004786.2:p.Thr289Ser
XM_006719895.1:c.-56C>G XP_006719958.1:n.-56C>G
XM_006719895.2:c.-56C>G XP_006719958.1:n.-56C>G
NM_004795.4:c.866C>G MANE Select NP_004786.2:p.Thr289Ser
Search 100 bp 5'
Search 100 bp 3'