Canonical Allele Identifier: CA244122059

Gene: TBX5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114385578G>A , CM000674.2:g.114385578G>A	GRCh38
NC_000012.11:g.114823383G>A , CM000674.1:g.114823383G>A	GRCh37
NC_000012.10:g.113307766G>A	NCBI36
NG_007373.1:g.27865C>T , LRG_670:g.27865C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_181486.4:c.664-11C>T MANE Select	NP_852259.1:n.664-11C>T
ENST00000405440.7:c.664-11C>T MANE Select	ENSP00000384152.3:n.664-11C>T
NM_000192.3:c.664-11C>T , LRG_670t1:c.664-11C>T	NP_000183.2:n.664-11C>T
NM_080717.2:c.514-11C>T	NP_542448.1:n.514-11C>T
NM_080717.3:c.514-11C>T	NP_542448.1:n.514-11C>T
NM_080717.4:c.514-11C>T	NP_542448.1:n.514-11C>T
NM_181486.2:c.664-11C>T	NP_852259.1:n.664-11C>T
ENST00000310346.8:c.664-11C>T	ENSP00000309913.4:n.664-11C>T
ENST00000349716.9:c.514-11C>T	ENSP00000337723.5:n.514-11C>T
ENST00000405440.6:c.664-11C>T	ENSP00000384152.2:n.664-11C>T
ENST00000526441.1:c.664-11C>T	ENSP00000433292.1:n.664-11C>T
XM_017019912.1:c.712-11C>T	XP_016875401.1:n.712-11C>T