Canonical Allele Identifier: CA13591780
Gene: TBC1D30 HGNC NCBI

Linked Data

dbSNP Id: rs939876
gnomAD v2: 12-65252118-A-G
gnomAD v3: 12-64858338-A-G
gnomAD v4: 12-64858338-A-G
MyVariant Identifiers: chr12:g.65252118A>G (hg19) chr12:g.64858338A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64858338A>G , CM000674.2:g.64858338A>G GRCh38
NC_000012.11:g.65252118A>G , CM000674.1:g.65252118A>G GRCh37
NC_000012.10:g.63538385A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000539867.6:c.1039-6330A>G MANE Select ENSP00000440207.1:n.1039-6330A>G
ENST00000542120.6:c.1528-6330A>G ENSP00000440640.2:n.1528-6330A>G
ENST00000674171.1:c.942-6330A>G
ENST00000674237.1:c.697-6330A>G ENSP00000501371.1:n.697-6330A>G
ENST00000674281.1:c.697-6330A>G ENSP00000501395.1:n.697-6330A>G
ENST00000539867.5:c.1039-6330A>G ENSP00000440207.1:n.1039-6330A>G
ENST00000542120.5:c.697-6330A>G ENSP00000440640.1:n.697-6330A>G
NM_015279.1:c.1039-6330A>G NP_056094.1:n.1039-6330A>G
XM_011538078.1:c.1039-6330A>G XP_011536380.1:n.1039-6330A>G
NM_001330186.1:c.1039-6330A>G NP_001317115.1:n.1039-6330A>G
NM_001330187.1:c.697-6330A>G NP_001317116.1:n.697-6330A>G
NM_001330188.1:c.697-6330A>G NP_001317117.1:n.697-6330A>G
NM_001364838.1:c.697-6330A>G NP_001351767.1:n.697-6330A>G
XM_011538078.2:c.1039-6330A>G XP_011536380.1:n.1039-6330A>G
XM_017019084.1:c.697-6330A>G XP_016874573.1:n.697-6330A>G
XM_017019087.2:c.697-6330A>G XP_016874576.1:n.697-6330A>G
XM_024448901.1:c.1528-6330A>G XP_024304669.1:n.1528-6330A>G
XM_024448902.1:c.1528-6330A>G XP_024304670.1:n.1528-6330A>G
XM_024448903.1:c.1528-6330A>G XP_024304671.1:n.1528-6330A>G
XM_024448904.1:c.697-6330A>G XP_024304672.1:n.697-6330A>G
NM_001330186.2:c.1039-6330A>G NP_001317115.1:n.1039-6330A>G
NM_001330188.2:c.697-6330A>G NP_001317117.1:n.697-6330A>G
NM_001364838.2:c.697-6330A>G NP_001351767.1:n.697-6330A>G
NM_015279.2:c.1039-6330A>G MANE Select NP_056094.1:n.1039-6330A>G
NM_001330187.2:c.697-6330A>G NP_001317116.1:n.697-6330A>G
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