Canonical Allele Identifier: CA387790660
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053935C>G , CM000675.2:g.33053935C>G GRCh38
NC_000013.10:g.33628072C>G , CM000675.1:g.33628072C>G GRCh37
NC_000013.9:g.32526072C>G NCBI36
NG_011485.1:g.42502C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.988C>G MANE Select ENSP00000369442.3:p.Pro330Ala
ENST00000380099.3:c.988C>G ENSP00000369442.3:p.Pro330Ala
ENST00000487852.1:n.996C>G
NM_004795.3:c.988C>G NP_004786.2:p.Pro330Ala
XM_006719895.1:c.67C>G XP_006719958.1:p.Pro23Ala
XM_006719895.2:c.67C>G XP_006719958.1:p.Pro23Ala
NM_004795.4:c.988C>G MANE Select NP_004786.2:p.Pro330Ala