Canonical Allele Identifier: CA490899176
Gene: KBTBD13 HGNC NCBI

Linked Data

gnomAD v4: 15-65077628-C-A
MyVariant Identifiers: chr15:g.65369966C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077628C>A , CM000677.2:g.65077628C>A GRCh38
NC_000015.9:g.65369966C>A , CM000677.1:g.65369966C>A GRCh37
NC_000015.8:g.63157019C>A NCBI36
NG_021411.1:g.5813C>A , LRG_682:g.5813C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.813C>A MANE Select ENSP00000388723.2:p.Pro271=
ENST00000432196.3:c.813C>A ENSP00000388723.2:p.Pro271=
NM_001101362.2:c.813C>A , LRG_682t1:c.813C>A NP_001094832.1:p.Pro271=
NM_001101362.3:c.813C>A MANE Select NP_001094832.1:p.Pro271=
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