Canonical Allele Identifier: CA387792602
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055227A>C , CM000675.2:g.33055227A>C GRCh38
NC_000013.10:g.33629364A>C , CM000675.1:g.33629364A>C GRCh37
NC_000013.9:g.32527364A>C NCBI36
NG_011485.1:g.43794A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1511A>C MANE Select ENSP00000369442.3:p.Asn504Thr
ENST00000380099.3:c.1511A>C ENSP00000369442.3:p.Asn504Thr
ENST00000487852.1:n.1519A>C
NM_004795.3:c.1511A>C NP_004786.2:p.Asn504Thr
XM_006719895.1:c.590A>C XP_006719958.1:p.Asn197Thr
XM_006719895.2:c.590A>C XP_006719958.1:p.Asn197Thr
NM_004795.4:c.1511A>C MANE Select NP_004786.2:p.Asn504Thr