Canonical Allele Identifier: CA386863599

Gene: TBX5

Linked Data

• gnomAD v4: 12-114403844-C-G
• COSMIC: COSM358755
• MyVariant Identifiers: chr12:g.114841649C>G (hg19) ; chr12:g.114403844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.114403844C>G , CM000674.2:g.114403844C>G	GRCh38
NC_000012.11:g.114841649C>G , CM000674.1:g.114841649C>G	GRCh37
NC_000012.10:g.113326032C>G	NCBI36
NG_007373.1:g.9599G>C , LRG_670:g.9599G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000405440.7:c.55G>C MANE Select	ENSP00000384152.3:p.Ala19Pro
ENST00000310346.8:c.55G>C	ENSP00000309913.4:p.Ala19Pro
ENST00000349716.9:c.-3-1924G>C	ENSP00000337723.5:n.-3-1924G>C
ENST00000405440.6:c.55G>C	ENSP00000384152.2:p.Ala19Pro
ENST00000526441.1:c.55G>C	ENSP00000433292.1:p.Ala19Pro
ENST00000552726.1:n.106G>C
NM_000192.3:c.55G>C , LRG_670t1:c.55G>C	NP_000183.2:p.Ala19Pro
NM_080717.2:c.-3-1924G>C	NP_542448.1:n.-3-1924G>C
NM_181486.2:c.55G>C	NP_852259.1:p.Ala19Pro
XM_017019912.1:c.103G>C	XP_016875401.1:p.Ala35Pro
NM_080717.3:c.-3-1924G>C	NP_542448.1:n.-3-1924G>C
NM_181486.4:c.55G>C MANE Select	NP_852259.1:p.Ala19Pro
NM_080717.4:c.-3-1924G>C	NP_542448.1:n.-3-1924G>C