Canonical Allele Identifier: CA6944009
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1363220139
ExAC: 13:33628062 G / A
gnomAD v2: 13-33628062-G-A
gnomAD v4: 13-33053925-G-A
MyVariant Identifiers: chr13:g.33628062G>A (hg19) chr13:g.33628062_33628063delinsAT (hg19) chr13:g.33053925G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053925G>A , CM000675.2:g.33053925G>A GRCh38
NC_000013.10:g.33628062G>A , CM000675.1:g.33628062G>A GRCh37
NC_000013.9:g.32526062G>A NCBI36
NG_011485.1:g.42492G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.978G>A MANE Select ENSP00000369442.3:p.Trp326Ter
ENST00000380099.3:c.978G>A ENSP00000369442.3:p.Trp326Ter
ENST00000487852.1:n.986G>A
NM_004795.3:c.978G>A NP_004786.2:p.Trp326Ter
XM_006719895.1:c.57G>A XP_006719958.1:p.Trp19Ter
XM_006719895.2:c.57G>A XP_006719958.1:p.Trp19Ter
NM_004795.4:c.978G>A MANE Select NP_004786.2:p.Trp326Ter
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