Canonical Allele Identifier: CA387790866
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1401727187
MyVariant Identifiers: chr13:g.33628162A>C (hg19) chr13:g.33054025A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33054025A>C , CM000675.2:g.33054025A>C GRCh38
NC_000013.10:g.33628162A>C , CM000675.1:g.33628162A>C GRCh37
NC_000013.9:g.32526162A>C NCBI36
NG_011485.1:g.42592A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.1078A>C MANE Select ENSP00000369442.3:p.Ile360Leu
ENST00000380099.3:c.1078A>C ENSP00000369442.3:p.Ile360Leu
ENST00000487852.1:n.1086A>C
NM_004795.3:c.1078A>C NP_004786.2:p.Ile360Leu
XM_006719895.1:c.157A>C XP_006719958.1:p.Ile53Leu
XM_006719895.2:c.157A>C XP_006719958.1:p.Ile53Leu
NM_004795.4:c.1078A>C MANE Select NP_004786.2:p.Ile360Leu
Search 100 bp 5'
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