Canonical Allele Identifier: CA247515644
Gene: KL HGNC NCBI

Linked Data

dbSNP Id: rs950609140
MyVariant Identifiers: chr13:g.33610673A>C (hg19) chr13:g.33036536A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.33036536A>C , CM000675.2:g.33036536A>C GRCh38
NC_000013.10:g.33610673A>C , CM000675.1:g.33610673A>C GRCh37
NC_000013.9:g.32508673A>C NCBI36
NG_011485.1:g.25103A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380099.4:c.820-17231A>C MANE Select ENSP00000369442.3:n.820-17231A>C
ENST00000380099.3:c.820-17231A>C ENSP00000369442.3:n.820-17231A>C
ENST00000487852.1:n.828-17231A>C
NM_004795.3:c.820-17231A>C NP_004786.2:n.820-17231A>C
XM_006719895.1:c.-102-17231A>C XP_006719958.1:n.-102-17231A>C
XM_006719895.2:c.-102-17231A>C XP_006719958.1:n.-102-17231A>C
NM_004795.4:c.820-17231A>C MANE Select NP_004786.2:n.820-17231A>C
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