Canonical Allele Identifier: CA481920924

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114841569G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403764G>A , CM000674.2:g.114403764G>A	GRCh38
NC_000012.11:g.114841569G>A , CM000674.1:g.114841569G>A	GRCh37
NC_000012.10:g.113325952G>A	NCBI36
NG_007373.1:g.9679C>T , LRG_670:g.9679C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.135C>T MANE Select	ENSP00000384152.3:p.Ala45=
ENST00000310346.8:c.135C>T	ENSP00000309913.4:p.Ala45=
ENST00000349716.9:c.-3-1844C>T	ENSP00000337723.5:n.-3-1844C>T
ENST00000405440.6:c.135C>T	ENSP00000384152.2:p.Ala45=
ENST00000526441.1:c.135C>T	ENSP00000433292.1:p.Ala45=
ENST00000552726.1:n.186C>T
NM_000192.3:c.135C>T , LRG_670t1:c.135C>T	NP_000183.2:p.Ala45=
NM_080717.2:c.-3-1844C>T	NP_542448.1:n.-3-1844C>T
NM_181486.2:c.135C>T	NP_852259.1:p.Ala45=
XM_017019912.1:c.183C>T	XP_016875401.1:p.Ala61=
NM_080717.3:c.-3-1844C>T	NP_542448.1:n.-3-1844C>T
NM_181486.4:c.135C>T MANE Select	NP_852259.1:p.Ala45=
NM_080717.4:c.-3-1844C>T	NP_542448.1:n.-3-1844C>T