Canonical Allele Identifier: CA2621124109

Gene: TBX5

Linked Data

• gnomAD v4: 12-114354882-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114354882G>C , CM000674.2:g.114354882G>C	GRCh38
NC_000012.11:g.114792687G>C , CM000674.1:g.114792687G>C	GRCh37
NC_000012.10:g.113277070G>C	NCBI36
NG_007373.1:g.58561C>G , LRG_670:g.58561C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.*650C>G MANE Select	ENSP00000384152.3:n.*650C>G
ENST00000310346.8:c.*650C>G	ENSP00000309913.4:n.*650C>G
ENST00000349716.9:c.*650C>G	ENSP00000337723.5:n.*650C>G
NM_000192.3:c.*650C>G , LRG_670t1:c.*650C>G	NP_000183.2:n.*650C>G
NM_080717.2:c.*650C>G	NP_542448.1:n.*650C>G
NM_181486.2:c.*650C>G	NP_852259.1:n.*650C>G
XM_017019912.1:c.*650C>G	XP_016875401.1:n.*650C>G
NM_080717.3:c.*650C>G	NP_542448.1:n.*650C>G
NM_181486.4:c.*650C>G MANE Select	NP_852259.1:n.*650C>G
NM_080717.4:c.*650C>G	NP_542448.1:n.*650C>G