Canonical Allele Identifier: CA2632670549

Gene: TBX6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30086143G>A , CM000678.2:g.30086143G>A	GRCh38
NC_000016.9:g.30097464G>A , CM000678.1:g.30097464G>A	GRCh37
NC_000016.8:g.30004965G>A	NCBI36
NG_023283.1:g.10742C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004608.4:c.*82C>T MANE Select	NP_004599.2:n.*82C>T
ENST00000395224.7:c.*82C>T MANE Select	ENSP00000378650.2:n.*82C>T
NM_004608.3:c.*82C>T	NP_004599.2:n.*82C>T
ENST00000279386.6:c.*82C>T	ENSP00000279386.2:n.*82C>T
ENST00000395224.6:c.*82C>T	ENSP00000378650.2:n.*82C>T
ENST00000567664.5:c.*527C>T	ENSP00000460425.1:n.*527C>T
ENST00000627355.2:c.*82C>T	ENSP00000485762.1:n.*82C>T
XM_005255523.1:c.*82C>T	XP_005255580.1:n.*82C>T
XM_005255523.2:c.*82C>T	XP_005255580.1:n.*82C>T
XM_011545926.1:c.*82C>T	XP_011544228.1:n.*82C>T
XM_011545926.3:c.*82C>T	XP_011544228.1:n.*82C>T
XM_017023614.1:c.*82C>T	XP_016879103.1:n.*82C>T