Canonical Allele Identifier: CA387790617
Gene: KL HGNC NCBI

Linked Data

ClinVar Variation Id: 881422
ClinVar RCV Id: RCV001110411
dbSNP Id: rs1453773670
MyVariant Identifiers: chr13:g.33628058G>T (hg19) chr13:g.33053921G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053921G>T , CM000675.2:g.33053921G>T GRCh38
NC_000013.10:g.33628058G>T , CM000675.1:g.33628058G>T GRCh37
NC_000013.9:g.32526058G>T NCBI36
NG_011485.1:g.42488G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.974G>T MANE Select ENSP00000369442.3:p.Gly325Val
ENST00000380099.3:c.974G>T ENSP00000369442.3:p.Gly325Val
ENST00000487852.1:n.982G>T
NM_004795.3:c.974G>T NP_004786.2:p.Gly325Val
XM_006719895.1:c.53G>T XP_006719958.1:p.Gly18Val
XM_006719895.2:c.53G>T XP_006719958.1:p.Gly18Val
NM_004795.4:c.974G>T MANE Select NP_004786.2:p.Gly325Val
Search 100 bp 5'
Search 100 bp 3'