Canonical Allele Identifier: CA247515360
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1023020257
MyVariant Identifiers: chr13:g.33036047A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33036047A>C , CM000675.2:g.33036047A>C GRCh38
NC_000013.10:g.33610184A>C , CM000675.1:g.33610184A>C GRCh37
NC_000013.9:g.32508184A>C NCBI36
NG_011485.1:g.24614A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000380099.4:c.820-17720A>C MANE Select ENSP00000369442.3:n.820-17720A>C
ENST00000380099.3:c.820-17720A>C ENSP00000369442.3:n.820-17720A>C
ENST00000487852.1:n.828-17720A>C
NM_004795.3:c.820-17720A>C NP_004786.2:n.820-17720A>C
XM_006719895.1:c.-102-17720A>C XP_006719958.1:n.-102-17720A>C
XM_006719895.2:c.-102-17720A>C XP_006719958.1:n.-102-17720A>C
NM_004795.4:c.820-17720A>C MANE Select NP_004786.2:n.820-17720A>C