Canonical Allele Identifier: CA386863468

Gene: TBX5

Linked Data

• MyVariant Identifiers: chr12:g.114841583A>G (hg19) ; chr12:g.114403778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403778A>G , CM000674.2:g.114403778A>G	GRCh38
NC_000012.11:g.114841583A>G , CM000674.1:g.114841583A>G	GRCh37
NC_000012.10:g.113325966A>G	NCBI36
NG_007373.1:g.9665T>C , LRG_670:g.9665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.121T>C MANE Select	ENSP00000384152.3:p.Ser41Pro
ENST00000310346.8:c.121T>C	ENSP00000309913.4:p.Ser41Pro
ENST00000349716.9:c.-3-1858T>C	ENSP00000337723.5:n.-3-1858T>C
ENST00000405440.6:c.121T>C	ENSP00000384152.2:p.Ser41Pro
ENST00000526441.1:c.121T>C	ENSP00000433292.1:p.Ser41Pro
ENST00000552726.1:n.172T>C
NM_000192.3:c.121T>C , LRG_670t1:c.121T>C	NP_000183.2:p.Ser41Pro
NM_080717.2:c.-3-1858T>C	NP_542448.1:n.-3-1858T>C
NM_181486.2:c.121T>C	NP_852259.1:p.Ser41Pro
XM_017019912.1:c.169T>C	XP_016875401.1:p.Ser57Pro
NM_080717.3:c.-3-1858T>C	NP_542448.1:n.-3-1858T>C
NM_181486.4:c.121T>C MANE Select	NP_852259.1:p.Ser41Pro
NM_080717.4:c.-3-1858T>C	NP_542448.1:n.-3-1858T>C