Canonical Allele Identifier: CA683850219

Gene: TBX3 TBX3-AS1

Linked Data

• dbSNP Id: rs1383358904
• gnomAD v4: 12-114683387-G-C
• MyVariant Identifiers: chr12:g.115121192G>C (hg19) ; chr12:g.114683387G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114683387G>C , CM000674.2:g.114683387G>C	GRCh38
NC_000012.11:g.115121192G>C , CM000674.1:g.115121192G>C	GRCh37
NC_000012.10:g.113605575G>C	NCBI36
NG_008315.1:g.5778C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349155.7:c.-187C>G (TBX3) MANE Select	ENSP00000257567.2:n.-187C>G
ENST00000257566.7:c.-187C>G (TBX3)	ENSP00000257566.3:n.-187C>G
ENST00000349155.6:c.-187C>G (TBX3)	ENSP00000257567.2:n.-187C>G
ENST00000552054.1:n.48C>G (TBX3)
ENST00000613550.1:c.-187C>G (TBX3)	ENSP00000480048.1:n.-187C>G
NM_005996.3:c.-187C>G (TBX3)	NP_005987.3:n.-187C>G
NM_016569.3:c.-187C>G (TBX3)	NP_057653.3:n.-187C>G
XR_002957433.1:n.114+753G>C (TBX3-AS1)
NM_005996.4:c.-187C>G (TBX3) MANE Select	NP_005987.3:n.-187C>G
NM_016569.4:c.-187C>G (TBX3)	NP_057653.3:n.-187C>G