Canonical Allele Identifier: CA2621123926

Gene: TBX5

Linked Data

• gnomAD v4: 12-114354383-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114354383C>A , CM000674.2:g.114354383C>A	GRCh38
NC_000012.11:g.114792188C>A , CM000674.1:g.114792188C>A	GRCh37
NC_000012.10:g.113276571C>A	NCBI36
NG_007373.1:g.59060G>T , LRG_670:g.59060G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.*1149G>T MANE Select	ENSP00000384152.3:n.*1149G>T
ENST00000310346.8:c.*1149G>T	ENSP00000309913.4:n.*1149G>T
ENST00000349716.9:c.*1149G>T	ENSP00000337723.5:n.*1149G>T
NM_000192.3:c.*1149G>T , LRG_670t1:c.*1149G>T	NP_000183.2:n.*1149G>T
NM_080717.2:c.*1149G>T	NP_542448.1:n.*1149G>T
NM_181486.2:c.*1149G>T	NP_852259.1:n.*1149G>T
XM_017019912.1:c.*1149G>T	XP_016875401.1:n.*1149G>T
NM_080717.3:c.*1149G>T	NP_542448.1:n.*1149G>T
NM_181486.4:c.*1149G>T MANE Select	NP_852259.1:n.*1149G>T
NM_080717.4:c.*1149G>T	NP_542448.1:n.*1149G>T