Canonical Allele Identifier: CA395519917

Gene: TBX6

Linked Data

• MyVariant Identifiers: chr16:g.30100367T>A (hg19) ; chr16:g.30089046T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30089046T>A , CM000678.2:g.30089046T>A	GRCh38
NC_000016.9:g.30100367T>A , CM000678.1:g.30100367T>A	GRCh37
NC_000016.8:g.30007868T>A	NCBI36
NG_023283.1:g.7839A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395224.7:c.518A>T MANE Select	ENSP00000378650.2:p.Tyr173Phe
ENST00000279386.6:c.518A>T	ENSP00000279386.2:p.Tyr173Phe
ENST00000395224.6:c.518A>T	ENSP00000378650.2:p.Tyr173Phe
ENST00000553607.1:c.518A>T	ENSP00000461223.1:p.Tyr173Phe
ENST00000567664.5:c.518A>T	ENSP00000460425.1:p.Tyr173Phe
ENST00000627355.2:c.518A>T	ENSP00000485762.1:p.Tyr173Phe
NM_004608.3:c.518A>T	NP_004599.2:p.Tyr173Phe
XM_005255523.1:c.518A>T	XP_005255580.1:p.Tyr173Phe
XM_011545926.1:c.518A>T	XP_011544228.1:p.Tyr173Phe
XR_950840.1:n.1262A>T
XM_005255523.2:c.518A>T	XP_005255580.1:p.Tyr173Phe
XM_011545926.3:c.518A>T	XP_011544228.1:p.Tyr173Phe
XM_017023614.1:c.518A>T	XP_016879103.1:p.Tyr173Phe
XR_950840.3:n.1252A>T
NM_004608.4:c.518A>T MANE Select	NP_004599.2:p.Tyr173Phe