Canonical Allele Identifier: CA609105133
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1299565223
gnomAD v2: 13-33598685-A-G
gnomAD v3: 13-33024547-A-G
gnomAD v4: 13-33024547-A-G
MyVariant Identifiers: chr13:g.33598685A>G (hg19) chr13:g.33024547A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33024547A>G , CM000675.2:g.33024547A>G GRCh38
NC_000013.10:g.33598685A>G , CM000675.1:g.33598685A>G GRCh37
NC_000013.9:g.32496685A>G NCBI36
NG_011485.1:g.13115A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.819+7288A>G MANE Select ENSP00000369442.3:n.819+7288A>G
ENST00000380099.3:c.819+7288A>G ENSP00000369442.3:n.819+7288A>G
ENST00000487852.1:n.827+7288A>G
NM_004795.3:c.819+7288A>G NP_004786.2:n.819+7288A>G
XM_006719895.1:c.-103+8234A>G XP_006719958.1:n.-103+8234A>G
XM_006719895.2:c.-103+8234A>G XP_006719958.1:n.-103+8234A>G
NM_004795.4:c.819+7288A>G MANE Select NP_004786.2:n.819+7288A>G
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