Canonical Allele Identifier: CA387790056
Gene: KL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33053822G>C , CM000675.2:g.33053822G>C GRCh38
NC_000013.10:g.33627959G>C , CM000675.1:g.33627959G>C GRCh37
NC_000013.9:g.32525959G>C NCBI36
NG_011485.1:g.42389G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.875G>C MANE Select ENSP00000369442.3:p.Gly292Ala
ENST00000380099.3:c.875G>C ENSP00000369442.3:p.Gly292Ala
ENST00000487852.1:n.883G>C
NM_004795.3:c.875G>C NP_004786.2:p.Gly292Ala
XM_006719895.1:c.-47G>C XP_006719958.1:n.-47G>C
XM_006719895.2:c.-47G>C XP_006719958.1:n.-47G>C
NM_004795.4:c.875G>C MANE Select NP_004786.2:p.Gly292Ala