Canonical Allele Identifier: CA386869683
Gene: TBX3 HGNC NCBI

Linked Data

dbSNP Id: rs780968472
gnomAD v2: 12-115112611-C-A
gnomAD v3: 12-114674806-C-A
gnomAD v4: 12-114674806-C-A
MyVariant Identifiers: chr12:g.115112611C>A (hg19) chr12:g.114674806C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.114674806C>A , CM000674.2:g.114674806C>A GRCh38
NC_000012.11:g.115112611C>A , CM000674.1:g.115112611C>A GRCh37
NC_000012.10:g.113596994C>A NCBI36
NG_008315.1:g.14359G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000349155.7:c.1069G>T MANE Select ENSP00000257567.2:p.Ala357Ser
ENST00000257566.7:c.1129G>T ENSP00000257566.3:p.Ala377Ser
ENST00000349155.6:c.1069G>T ENSP00000257567.2:p.Ala357Ser
ENST00000613550.1:c.1069G>T ENSP00000480048.1:p.Ala357Ser
NM_005996.3:c.1069G>T NP_005987.3:p.Ala357Ser
NM_016569.3:c.1129G>T NP_057653.3:p.Ala377Ser
NM_005996.4:c.1069G>T MANE Select NP_005987.3:p.Ala357Ser
NM_016569.4:c.1129G>T NP_057653.3:p.Ala377Ser
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