Canonical Allele Identifier: CA13847628
Gene: TBC1D4 HGNC NCBI

Linked Data

dbSNP Id: rs9565164
gnomAD v2: 13-76039376-T-C
gnomAD v3: 13-75465240-T-C
gnomAD v4: 13-75465240-T-C
MyVariant Identifiers: chr13:g.76039376T>C (hg19) chr13:g.75465240T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.75465240T>C , CM000675.2:g.75465240T>C GRCh38
NC_000013.10:g.76039376T>C , CM000675.1:g.76039376T>C GRCh37
NC_000013.9:g.74937377T>C NCBI36
NG_042850.1:g.21929A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000377636.8:c.498+16030A>G MANE Select ENSP00000366863.3:n.498+16030A>G
ENST00000377625.6:c.498+16030A>G ENSP00000366852.2:n.498+16030A>G
ENST00000377636.7:c.498+16030A>G ENSP00000366863.3:n.498+16030A>G
ENST00000431480.6:c.498+16030A>G ENSP00000395986.2:n.498+16030A>G
NM_001286658.1:c.498+16030A>G NP_001273587.1:n.498+16030A>G
NM_001286658.2:c.498+16030A>G NP_001273587.1:n.498+16030A>G
NM_001286659.1:c.498+16030A>G NP_001273588.1:n.498+16030A>G
NM_001286659.2:c.498+16030A>G NP_001273588.1:n.498+16030A>G
NM_014832.3:c.498+16030A>G NP_055647.2:n.498+16030A>G
NM_014832.4:c.498+16030A>G NP_055647.2:n.498+16030A>G
XM_005266603.1:c.498+16030A>G XP_005266660.1:n.498+16030A>G
XM_011535331.1:c.498+16030A>G XP_011533633.1:n.498+16030A>G
XM_005266603.2:c.498+16030A>G XP_005266660.1:n.498+16030A>G
XM_011535331.2:c.498+16030A>G XP_011533633.1:n.498+16030A>G
NM_014832.5:c.498+16030A>G MANE Select NP_055647.2:n.498+16030A>G
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