Canonical Allele Identifier: CA607711570

Gene: TBX5

Linked Data

• dbSNP Id: rs1479321329
• gnomAD v2: 12-114793073-G-A
• gnomAD v3: 12-114355268-G-A
• gnomAD v4: 12-114355268-G-A
• MyVariant Identifiers: chr12:g.114793073G>A (hg19) ; chr12:g.114355268G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355268G>A , CM000674.2:g.114355268G>A	GRCh38
NC_000012.11:g.114793073G>A , CM000674.1:g.114793073G>A	GRCh37
NC_000012.10:g.113277456G>A	NCBI36
NG_007373.1:g.58175C>T , LRG_670:g.58175C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.*264C>T MANE Select	ENSP00000384152.3:n.*264C>T
ENST00000310346.8:c.*264C>T	ENSP00000309913.4:n.*264C>T
ENST00000349716.9:c.*264C>T	ENSP00000337723.5:n.*264C>T
NM_000192.3:c.*264C>T , LRG_670t1:c.*264C>T	NP_000183.2:n.*264C>T
NM_080717.2:c.*264C>T	NP_542448.1:n.*264C>T
NM_181486.2:c.*264C>T	NP_852259.1:n.*264C>T
XM_017019912.1:c.*264C>T	XP_016875401.1:n.*264C>T
NM_080717.3:c.*264C>T	NP_542448.1:n.*264C>T
NM_181486.4:c.*264C>T MANE Select	NP_852259.1:n.*264C>T
NM_080717.4:c.*264C>T	NP_542448.1:n.*264C>T