Canonical Allele Identifier: CA2622630005
Gene: KL HGNC NCBI

Linked Data

gnomAD v4: 13-33055442-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055442G>C , CM000675.2:g.33055442G>C GRCh38
NC_000013.10:g.33629579G>C , CM000675.1:g.33629579G>C GRCh37
NC_000013.9:g.32527579G>C NCBI36
NG_011485.1:g.44009G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+127G>C MANE Select ENSP00000369442.3:n.1599+127G>C
ENST00000380099.3:c.1599+127G>C ENSP00000369442.3:n.1599+127G>C
ENST00000487852.1:n.1657+77G>C
NM_004795.3:c.1599+127G>C NP_004786.2:n.1599+127G>C
XM_006719895.1:c.678+127G>C XP_006719958.1:n.678+127G>C
XM_006719895.2:c.678+127G>C XP_006719958.1:n.678+127G>C
NM_004795.4:c.1599+127G>C MANE Select NP_004786.2:n.1599+127G>C
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