Canonical Allele Identifier: CA483441745
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33628122A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053985A>T , CM000675.2:g.33053985A>T GRCh38
NC_000013.10:g.33628122A>T , CM000675.1:g.33628122A>T GRCh37
NC_000013.9:g.32526122A>T NCBI36
NG_011485.1:g.42552A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1038A>T MANE Select ENSP00000369442.3:p.Ser346=
ENST00000380099.3:c.1038A>T ENSP00000369442.3:p.Ser346=
ENST00000487852.1:n.1046A>T
NM_004795.3:c.1038A>T NP_004786.2:p.Ser346=
XM_006719895.1:c.117A>T XP_006719958.1:p.Ser39=
XM_006719895.2:c.117A>T XP_006719958.1:p.Ser39=
NM_004795.4:c.1038A>T MANE Select NP_004786.2:p.Ser346=