Canonical Allele Identifier: CA6944008
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs751106247
ExAC: 13:33628061 G / T
gnomAD v2: 13-33628061-G-T
MyVariant Identifiers: chr13:g.33628061G>T (hg19) chr13:g.33053924G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053924G>T , CM000675.2:g.33053924G>T GRCh38
NC_000013.10:g.33628061G>T , CM000675.1:g.33628061G>T GRCh37
NC_000013.9:g.32526061G>T NCBI36
NG_011485.1:g.42491G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.977G>T MANE Select ENSP00000369442.3:p.Trp326Leu
ENST00000380099.3:c.977G>T ENSP00000369442.3:p.Trp326Leu
ENST00000487852.1:n.985G>T
NM_004795.3:c.977G>T NP_004786.2:p.Trp326Leu
XM_006719895.1:c.56G>T XP_006719958.1:p.Trp19Leu
XM_006719895.2:c.56G>T XP_006719958.1:p.Trp19Leu
NM_004795.4:c.977G>T MANE Select NP_004786.2:p.Trp326Leu
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