Canonical Allele Identifier: CA387790606
Gene: KL HGNC NCBI

Linked Data

gnomAD v4: 13-33053918-T-G
MyVariant Identifiers: chr13:g.33628055T>G (hg19) chr13:g.33053918T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053918T>G , CM000675.2:g.33053918T>G GRCh38
NC_000013.10:g.33628055T>G , CM000675.1:g.33628055T>G GRCh37
NC_000013.9:g.32526055T>G NCBI36
NG_011485.1:g.42485T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.971T>G MANE Select ENSP00000369442.3:p.Leu324Arg
ENST00000380099.3:c.971T>G ENSP00000369442.3:p.Leu324Arg
ENST00000487852.1:n.979T>G
NM_004795.3:c.971T>G NP_004786.2:p.Leu324Arg
XM_006719895.1:c.50T>G XP_006719958.1:p.Leu17Arg
XM_006719895.2:c.50T>G XP_006719958.1:p.Leu17Arg
NM_004795.4:c.971T>G MANE Select NP_004786.2:p.Leu324Arg
Search 100 bp 5'
Search 100 bp 3'