Canonical Allele Identifier: CA395519693

Gene: TBX6

Linked Data

• MyVariant Identifiers: chr16:g.30100328A>C (hg19) ; chr16:g.30089007A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30089007A>C , CM000678.2:g.30089007A>C	GRCh38
NC_000016.9:g.30100328A>C , CM000678.1:g.30100328A>C	GRCh37
NC_000016.8:g.30007829A>C	NCBI36
NG_023283.1:g.7878T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395224.7:c.557T>G MANE Select	ENSP00000378650.2:p.Met186Arg
ENST00000279386.6:c.557T>G	ENSP00000279386.2:p.Met186Arg
ENST00000395224.6:c.557T>G	ENSP00000378650.2:p.Met186Arg
ENST00000553607.1:c.557T>G	ENSP00000461223.1:p.Met186Arg
ENST00000567664.5:c.557T>G	ENSP00000460425.1:p.Met186Arg
ENST00000627355.2:c.557T>G	ENSP00000485762.1:p.Met186Arg
NM_004608.3:c.557T>G	NP_004599.2:p.Met186Arg
XM_005255523.1:c.557T>G	XP_005255580.1:p.Met186Arg
XM_011545926.1:c.557T>G	XP_011544228.1:p.Met186Arg
XR_950840.1:n.1301T>G
XM_005255523.2:c.557T>G	XP_005255580.1:p.Met186Arg
XM_011545926.3:c.557T>G	XP_011544228.1:p.Met186Arg
XM_017023614.1:c.557T>G	XP_016879103.1:p.Met186Arg
XR_950840.3:n.1291T>G
NM_004608.4:c.557T>G MANE Select	NP_004599.2:p.Met186Arg