Canonical Allele Identifier: CA386870306

Gene: TBX3

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114679503A>G , CM000674.2:g.114679503A>G	GRCh38
NC_000012.11:g.115117308A>G , CM000674.1:g.115117308A>G	GRCh37
NC_000012.10:g.113601691A>G	NCBI36
NG_008315.1:g.9662T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.804+2T>C MANE Select	ENSP00000257567.2:n.804+2T>C
ENST00000257566.7:c.864+2T>C	ENSP00000257566.3:n.864+2T>C
ENST00000349155.6:c.804+2T>C	ENSP00000257567.2:n.804+2T>C
ENST00000548503.1:n.429+2T>C
ENST00000613550.1:c.804+2T>C	ENSP00000480048.1:n.804+2T>C
NM_005996.3:c.804+2T>C	NP_005987.3:n.804+2T>C
NM_016569.3:c.864+2T>C	NP_057653.3:n.864+2T>C
NM_005996.4:c.804+2T>C MANE Select	NP_005987.3:n.804+2T>C
NM_016569.4:c.864+2T>C	NP_057653.3:n.864+2T>C