Canonical Allele Identifier: CA322325

Gene: TBX5

Linked Data

• dbSNP Id: rs1555226575
• MyVariant Identifiers: chr12:g.114839626C>A (hg19) ; chr12:g.114401821C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401821C>A , CM000674.2:g.114401821C>A	GRCh38
NC_000012.11:g.114839626C>A , CM000674.1:g.114839626C>A	GRCh37
NC_000012.10:g.113324009C>A	NCBI36
NG_007373.1:g.11622G>T , LRG_670:g.11622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.242+5G>T MANE Select	ENSP00000384152.3:n.242+5G>T
ENST00000310346.8:c.242+5G>T	ENSP00000309913.4:n.242+5G>T
ENST00000349716.9:c.92+5G>T	ENSP00000337723.5:n.92+5G>T
ENST00000405440.6:c.242+5G>T	ENSP00000384152.2:n.242+5G>T
ENST00000526441.1:c.242+5G>T	ENSP00000433292.1:n.242+5G>T
ENST00000552726.1:n.293+5G>T
NM_000192.3:c.242+5G>T , LRG_670t1:c.242+5G>T	NP_000183.2:n.242+5G>T
NM_080717.2:c.92+5G>T	NP_542448.1:n.92+5G>T
NM_181486.2:c.242+5G>T	NP_852259.1:n.242+5G>T
XM_017019912.1:c.290+5G>T	XP_016875401.1:n.290+5G>T
NM_080717.3:c.92+5G>T	NP_542448.1:n.92+5G>T
NM_181486.4:c.242+5G>T MANE Select	NP_852259.1:n.242+5G>T
NM_080717.4:c.92+5G>T	NP_542448.1:n.92+5G>T