Canonical Allele Identifier: CA6944117
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs761748531
ExAC: 13:33629380 A / C
gnomAD v2: 13-33629380-A-C
gnomAD v3: 13-33055243-A-C
gnomAD v4: 13-33055243-A-C
MyVariant Identifiers: chr13:g.33629380A>C (hg19) chr13:g.33055243A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055243A>C , CM000675.2:g.33055243A>C GRCh38
NC_000013.10:g.33629380A>C , CM000675.1:g.33629380A>C GRCh37
NC_000013.9:g.32527380A>C NCBI36
NG_011485.1:g.43810A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1527A>C MANE Select ENSP00000369442.3:p.Leu509Phe
ENST00000380099.3:c.1527A>C ENSP00000369442.3:p.Leu509Phe
ENST00000487852.1:n.1535A>C
NM_004795.3:c.1527A>C NP_004786.2:p.Leu509Phe
XM_006719895.1:c.606A>C XP_006719958.1:p.Leu202Phe
XM_006719895.2:c.606A>C XP_006719958.1:p.Leu202Phe
NM_004795.4:c.1527A>C MANE Select NP_004786.2:p.Leu509Phe
Search 100 bp 5'
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