Canonical Allele Identifier: CA247529253
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs1017822988
gnomAD v2: 13-33629768-G-C
gnomAD v3: 13-33055631-G-C
gnomAD v4: 13-33055631-G-C
MyVariant Identifiers: chr13:g.33629768G>C (hg19) chr13:g.33055631G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33055631G>C , CM000675.2:g.33055631G>C GRCh38
NC_000013.10:g.33629768G>C , CM000675.1:g.33629768G>C GRCh37
NC_000013.9:g.32527768G>C NCBI36
NG_011485.1:g.44198G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.1599+316G>C MANE Select ENSP00000369442.3:n.1599+316G>C
ENST00000380099.3:c.1599+316G>C ENSP00000369442.3:n.1599+316G>C
ENST00000487852.1:n.1657+266G>C
NM_004795.3:c.1599+316G>C NP_004786.2:n.1599+316G>C
XM_006719895.1:c.678+316G>C XP_006719958.1:n.678+316G>C
XM_006719895.2:c.678+316G>C XP_006719958.1:n.678+316G>C
NM_004795.4:c.1599+316G>C MANE Select NP_004786.2:n.1599+316G>C
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