Canonical Allele Identifier: CA387790022
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33627954G>C (hg19) chr13:g.33053817G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053817G>C , CM000675.2:g.33053817G>C GRCh38
NC_000013.10:g.33627954G>C , CM000675.1:g.33627954G>C GRCh37
NC_000013.9:g.32525954G>C NCBI36
NG_011485.1:g.42384G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.870G>C MANE Select ENSP00000369442.3:p.Gln290His
ENST00000380099.3:c.870G>C ENSP00000369442.3:p.Gln290His
ENST00000487852.1:n.878G>C
NM_004795.3:c.870G>C NP_004786.2:p.Gln290His
XM_006719895.1:c.-52G>C XP_006719958.1:n.-52G>C
XM_006719895.2:c.-52G>C XP_006719958.1:n.-52G>C
NM_004795.4:c.870G>C MANE Select NP_004786.2:p.Gln290His
Search 100 bp 5'
Search 100 bp 3'