Canonical Allele Identifier: CA386863265

Gene: TBX5

Linked Data

• dbSNP Id: rs1327141955
• gnomAD v2: 12-114839707-C-G
• gnomAD v4: 12-114401902-C-G
• MyVariant Identifiers: chr12:g.114839707C>G (hg19) ; chr12:g.114401902C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114401902C>G , CM000674.2:g.114401902C>G	GRCh38
NC_000012.11:g.114839707C>G , CM000674.1:g.114839707C>G	GRCh37
NC_000012.10:g.113324090C>G	NCBI36
NG_007373.1:g.11541G>C , LRG_670:g.11541G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000405440.7:c.166G>C MANE Select	ENSP00000384152.3:p.Val56Leu
ENST00000310346.8:c.166G>C	ENSP00000309913.4:p.Val56Leu
ENST00000349716.9:c.16G>C	ENSP00000337723.5:p.Val6Leu
ENST00000405440.6:c.166G>C	ENSP00000384152.2:p.Val56Leu
ENST00000526441.1:c.166G>C	ENSP00000433292.1:p.Val56Leu
ENST00000552726.1:n.217G>C
NM_000192.3:c.166G>C , LRG_670t1:c.166G>C	NP_000183.2:p.Val56Leu
NM_080717.2:c.16G>C	NP_542448.1:p.Val6Leu
NM_181486.2:c.166G>C	NP_852259.1:p.Val56Leu
XM_017019912.1:c.214G>C	XP_016875401.1:p.Val72Leu
NM_080717.3:c.16G>C	NP_542448.1:p.Val6Leu
NM_181486.4:c.166G>C MANE Select	NP_852259.1:p.Val56Leu
NM_080717.4:c.16G>C	NP_542448.1:p.Val6Leu