Canonical Allele Identifier: CA395519700

Gene: TBX6

Linked Data

• MyVariant Identifiers: chr16:g.30100329T>A (hg19) ; chr16:g.30089008T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30089008T>A , CM000678.2:g.30089008T>A	GRCh38
NC_000016.9:g.30100329T>A , CM000678.1:g.30100329T>A	GRCh37
NC_000016.8:g.30007830T>A	NCBI36
NG_023283.1:g.7877A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395224.7:c.556A>T MANE Select	ENSP00000378650.2:p.Met186Leu
ENST00000279386.6:c.556A>T	ENSP00000279386.2:p.Met186Leu
ENST00000395224.6:c.556A>T	ENSP00000378650.2:p.Met186Leu
ENST00000553607.1:c.556A>T	ENSP00000461223.1:p.Met186Leu
ENST00000567664.5:c.556A>T	ENSP00000460425.1:p.Met186Leu
ENST00000627355.2:c.556A>T	ENSP00000485762.1:p.Met186Leu
NM_004608.3:c.556A>T	NP_004599.2:p.Met186Leu
XM_005255523.1:c.556A>T	XP_005255580.1:p.Met186Leu
XM_011545926.1:c.556A>T	XP_011544228.1:p.Met186Leu
XR_950840.1:n.1300A>T
XM_005255523.2:c.556A>T	XP_005255580.1:p.Met186Leu
XM_011545926.3:c.556A>T	XP_011544228.1:p.Met186Leu
XM_017023614.1:c.556A>T	XP_016879103.1:p.Met186Leu
XR_950840.3:n.1290A>T
NM_004608.4:c.556A>T MANE Select	NP_004599.2:p.Met186Leu