Canonical Allele Identifier: CA387792547
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055205T>G , CM000675.2:g.33055205T>G GRCh38
NC_000013.10:g.33629342T>G , CM000675.1:g.33629342T>G GRCh37
NC_000013.9:g.32527342T>G NCBI36
NG_011485.1:g.43772T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1489T>G MANE Select ENSP00000369442.3:p.Tyr497Asp
ENST00000380099.3:c.1489T>G ENSP00000369442.3:p.Tyr497Asp
ENST00000487852.1:n.1497T>G
NM_004795.3:c.1489T>G NP_004786.2:p.Tyr497Asp
XM_006719895.1:c.568T>G XP_006719958.1:p.Tyr190Asp
XM_006719895.2:c.568T>G XP_006719958.1:p.Tyr190Asp
NM_004795.4:c.1489T>G MANE Select NP_004786.2:p.Tyr497Asp