Canonical Allele Identifier: CA683909565

Gene: TBX5

Linked Data

• dbSNP Id: rs1179851598
• MyVariant Identifiers: chr12:g.114792706G>C (hg19) ; chr12:g.114354901G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114354901G>C , CM000674.2:g.114354901G>C	GRCh38
NC_000012.11:g.114792706G>C , CM000674.1:g.114792706G>C	GRCh37
NC_000012.10:g.113277089G>C	NCBI36
NG_007373.1:g.58542C>G , LRG_670:g.58542C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.*631C>G MANE Select	ENSP00000384152.3:n.*631C>G
ENST00000310346.8:c.*631C>G	ENSP00000309913.4:n.*631C>G
ENST00000349716.9:c.*631C>G	ENSP00000337723.5:n.*631C>G
NM_000192.3:c.*631C>G , LRG_670t1:c.*631C>G	NP_000183.2:n.*631C>G
NM_080717.2:c.*631C>G	NP_542448.1:n.*631C>G
NM_181486.2:c.*631C>G	NP_852259.1:n.*631C>G
XM_017019912.1:c.*631C>G	XP_016875401.1:n.*631C>G
NM_080717.3:c.*631C>G	NP_542448.1:n.*631C>G
NM_181486.4:c.*631C>G MANE Select	NP_852259.1:n.*631C>G
NM_080717.4:c.*631C>G	NP_542448.1:n.*631C>G