Canonical Allele Identifier: CA387792653
Gene: KL HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.33629375C>G (hg19) chr13:g.33055238C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055238C>G , CM000675.2:g.33055238C>G GRCh38
NC_000013.10:g.33629375C>G , CM000675.1:g.33629375C>G GRCh37
NC_000013.9:g.32527375C>G NCBI36
NG_011485.1:g.43805C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1522C>G MANE Select ENSP00000369442.3:p.Pro508Ala
ENST00000380099.3:c.1522C>G ENSP00000369442.3:p.Pro508Ala
ENST00000487852.1:n.1530C>G
NM_004795.3:c.1522C>G NP_004786.2:p.Pro508Ala
XM_006719895.1:c.601C>G XP_006719958.1:p.Pro201Ala
XM_006719895.2:c.601C>G XP_006719958.1:p.Pro201Ala
NM_004795.4:c.1522C>G MANE Select NP_004786.2:p.Pro508Ala
Search 100 bp 5'
Search 100 bp 3'