Canonical Allele Identifier: CA2739436888
Gene: KL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055347T>C , CM000675.2:g.33055347T>C GRCh38
NC_000013.10:g.33629484T>C , CM000675.1:g.33629484T>C GRCh37
NC_000013.9:g.32527484T>C NCBI36
NG_011485.1:g.43914T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+32T>C MANE Select ENSP00000369442.3:n.1599+32T>C
ENST00000380099.3:c.1599+32T>C ENSP00000369442.3:n.1599+32T>C
ENST00000487852.1:n.1639T>C
NM_004795.3:c.1599+32T>C NP_004786.2:n.1599+32T>C
XM_006719895.1:c.678+32T>C XP_006719958.1:n.678+32T>C
XM_006719895.2:c.678+32T>C XP_006719958.1:n.678+32T>C
NM_004795.4:c.1599+32T>C MANE Select NP_004786.2:n.1599+32T>C