Canonical Allele Identifier: CA6944015
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs779826596
ExAC: 13:33628086 T / C
gnomAD v2: 13-33628086-T-C
gnomAD v4: 13-33053949-T-C
MyVariant Identifiers: chr13:g.33628086T>C (hg19) chr13:g.33053949T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053949T>C , CM000675.2:g.33053949T>C GRCh38
NC_000013.10:g.33628086T>C , CM000675.1:g.33628086T>C GRCh37
NC_000013.9:g.32526086T>C NCBI36
NG_011485.1:g.42516T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1002T>C MANE Select ENSP00000369442.3:p.Asp334=
ENST00000380099.3:c.1002T>C ENSP00000369442.3:p.Asp334=
ENST00000487852.1:n.1010T>C
NM_004795.3:c.1002T>C NP_004786.2:p.Asp334=
XM_006719895.1:c.81T>C XP_006719958.1:p.Asp27=
XM_006719895.2:c.81T>C XP_006719958.1:p.Asp27=
NM_004795.4:c.1002T>C MANE Select NP_004786.2:p.Asp334=
Search 100 bp 5'
Search 100 bp 3'