Canonical Allele Identifier: CA482135700

Gene: TBX3

Linked Data

• dbSNP Id: rs757838938
• gnomAD v2: 12-115109925-G-A
• gnomAD v3: 12-114672120-G-A
• gnomAD v4: 12-114672120-G-A
• MyVariant Identifiers: chr12:g.115109925G>A (hg19) ; chr12:g.114672120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114672120G>A , CM000674.2:g.114672120G>A	GRCh38
NC_000012.11:g.115109925G>A , CM000674.1:g.115109925G>A	GRCh37
NC_000012.10:g.113594308G>A	NCBI36
NG_008315.1:g.17045C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000349155.7:c.1893C>T MANE Select	ENSP00000257567.2:p.Asp631=
ENST00000257566.7:c.1953C>T	ENSP00000257566.3:p.Asp651=
ENST00000349155.6:c.1893C>T	ENSP00000257567.2:p.Asp631=
ENST00000613550.1:c.1890C>T	ENSP00000480048.1:p.Asp630=
NM_005996.3:c.1893C>T	NP_005987.3:p.Asp631=
NM_016569.3:c.1953C>T	NP_057653.3:p.Asp651=
NM_005996.4:c.1893C>T MANE Select	NP_005987.3:p.Asp631=
NM_016569.4:c.1953C>T	NP_057653.3:p.Asp651=