Canonical Allele Identifier: CA386863423

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114841561T>G (hg19) ; chr12:g.114403756T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403756T>G , CM000674.2:g.114403756T>G	GRCh38
NC_000012.11:g.114841561T>G , CM000674.1:g.114841561T>G	GRCh37
NC_000012.10:g.113325944T>G	NCBI36
NG_007373.1:g.9687A>C , LRG_670:g.9687A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.143A>C MANE Select	ENSP00000384152.3:p.Gln48Pro
ENST00000310346.8:c.143A>C	ENSP00000309913.4:p.Gln48Pro
ENST00000349716.9:c.-3-1836A>C	ENSP00000337723.5:n.-3-1836A>C
ENST00000405440.6:c.143A>C	ENSP00000384152.2:p.Gln48Pro
ENST00000526441.1:c.143A>C	ENSP00000433292.1:p.Gln48Pro
ENST00000552726.1:n.194A>C
NM_000192.3:c.143A>C , LRG_670t1:c.143A>C	NP_000183.2:p.Gln48Pro
NM_080717.2:c.-3-1836A>C	NP_542448.1:n.-3-1836A>C
NM_181486.2:c.143A>C	NP_852259.1:p.Gln48Pro
XM_017019912.1:c.191A>C	XP_016875401.1:p.Gln64Pro
NM_080717.3:c.-3-1836A>C	NP_542448.1:n.-3-1836A>C
NM_181486.4:c.143A>C MANE Select	NP_852259.1:p.Gln48Pro
NM_080717.4:c.-3-1836A>C	NP_542448.1:n.-3-1836A>C