Canonical Allele Identifier: CA483441653
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33628056A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053919A>C , CM000675.2:g.33053919A>C GRCh38
NC_000013.10:g.33628056A>C , CM000675.1:g.33628056A>C GRCh37
NC_000013.9:g.32526056A>C NCBI36
NG_011485.1:g.42486A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.972A>C MANE Select ENSP00000369442.3:p.Leu324=
ENST00000380099.3:c.972A>C ENSP00000369442.3:p.Leu324=
ENST00000487852.1:n.980A>C
NM_004795.3:c.972A>C NP_004786.2:p.Leu324=
XM_006719895.1:c.51A>C XP_006719958.1:p.Leu17=
XM_006719895.2:c.51A>C XP_006719958.1:p.Leu17=
NM_004795.4:c.972A>C MANE Select NP_004786.2:p.Leu324=