Canonical Allele Identifier: CA6810017

Gene: TBX3

Linked Data

• dbSNP Id: rs376314271
• ExAC: 12:115112687 A / G
• gnomAD v2: 12-115112687-A-G
• gnomAD v3: 12-114674882-A-G
• gnomAD v4: 12-114674882-A-G
• MyVariant Identifiers: chr12:g.115112687A>G (hg19) ; chr12:g.114674882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114674882A>G , CM000674.2:g.114674882A>G	GRCh38
NC_000012.11:g.115112687A>G , CM000674.1:g.115112687A>G	GRCh37
NC_000012.10:g.113597070A>G	NCBI36
NG_008315.1:g.14283T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.1040-47T>C MANE Select	ENSP00000257567.2:n.1040-47T>C
ENST00000257566.7:c.1100-47T>C	ENSP00000257566.3:n.1100-47T>C
ENST00000349155.6:c.1040-47T>C	ENSP00000257567.2:n.1040-47T>C
ENST00000613550.1:c.1040-47T>C	ENSP00000480048.1:n.1040-47T>C
NM_005996.3:c.1040-47T>C	NP_005987.3:n.1040-47T>C
NM_016569.3:c.1100-47T>C	NP_057653.3:n.1100-47T>C
NM_005996.4:c.1040-47T>C MANE Select	NP_005987.3:n.1040-47T>C
NM_016569.4:c.1100-47T>C	NP_057653.3:n.1100-47T>C