Allele Registry

Canonical Allele Identifier: CA321755

Gene: TBX5 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.114355963G>A

GRCh37 chr12:g.114793768G>A

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000197304

RCV004555857

ClinVar Variation:

213821

dbSNP:

863223778

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114355963G>A , CM000674.2:g.114355963G>A	GRCh38
NC_000012.11:g.114793768G>A , CM000674.1:g.114793768G>A	GRCh37
NC_000012.10:g.113278151G>A	NCBI36
NG_007373.1:g.57480C>T , LRG_670:g.57480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.1126C>T MANE Select	ENSP00000384152.3:p.Gln376Ter
ENST00000310346.8:c.1126C>T	ENSP00000309913.4:p.Gln376Ter
ENST00000349716.9:c.976C>T	ENSP00000337723.5:p.Gln326Ter
ENST00000405440.6:c.1126C>T	ENSP00000384152.2:p.Gln376Ter
NM_000192.3:c.1126C>T , LRG_670t1:c.1126C>T	NP_000183.2:p.Gln376Ter
NM_080717.2:c.976C>T	NP_542448.1:p.Gln326Ter
NM_181486.2:c.1126C>T	NP_852259.1:p.Gln376Ter
XM_017019912.1:c.1174C>T	XP_016875401.1:p.Gln392Ter
NM_080717.3:c.976C>T	NP_542448.1:p.Gln326Ter
NM_181486.4:c.1126C>T MANE Select	NP_852259.1:p.Gln376Ter
NM_080717.4:c.976C>T	NP_542448.1:p.Gln326Ter

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