Canonical Allele Identifier: CA481920477

Gene: TBX5

Linked Data

• dbSNP Id: rs1871570676
• gnomAD v4: 12-114398615-C-T
• COSMIC: COSM4549261 ; COSM4549262
• MyVariant Identifiers: chr12:g.114836420C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114398615C>T , CM000674.2:g.114398615C>T	GRCh38
NC_000012.11:g.114836420C>T , CM000674.1:g.114836420C>T	GRCh37
NC_000012.10:g.113320803C>T	NCBI36
NG_007373.1:g.14828G>A , LRG_670:g.14828G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.468G>A MANE Select	ENSP00000384152.3:p.Gln156=
ENST00000310346.8:c.468G>A	ENSP00000309913.4:p.Gln156=
ENST00000349716.9:c.318G>A	ENSP00000337723.5:p.Gln106=
ENST00000405440.6:c.468G>A	ENSP00000384152.2:p.Gln156=
ENST00000526441.1:c.468G>A	ENSP00000433292.1:p.Gln156=
ENST00000552726.1:n.519G>A
NM_000192.3:c.468G>A , LRG_670t1:c.468G>A	NP_000183.2:p.Gln156=
NM_080717.2:c.318G>A	NP_542448.1:p.Gln106=
NM_181486.2:c.468G>A	NP_852259.1:p.Gln156=
XM_017019912.1:c.516G>A	XP_016875401.1:p.Gln172=
NM_080717.3:c.318G>A	NP_542448.1:p.Gln106=
NM_181486.4:c.468G>A MANE Select	NP_852259.1:p.Gln156=
NM_080717.4:c.318G>A	NP_542448.1:p.Gln106=