Canonical Allele Identifier: CA483441414
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33627960T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053823T>C , CM000675.2:g.33053823T>C GRCh38
NC_000013.10:g.33627960T>C , CM000675.1:g.33627960T>C GRCh37
NC_000013.9:g.32525960T>C NCBI36
NG_011485.1:g.42390T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.876T>C MANE Select ENSP00000369442.3:p.Gly292=
ENST00000380099.3:c.876T>C ENSP00000369442.3:p.Gly292=
ENST00000487852.1:n.884T>C
NM_004795.3:c.876T>C NP_004786.2:p.Gly292=
XM_006719895.1:c.-46T>C XP_006719958.1:n.-46T>C
XM_006719895.2:c.-46T>C XP_006719958.1:n.-46T>C
NM_004795.4:c.876T>C MANE Select NP_004786.2:p.Gly292=