Canonical Allele Identifier: CA14218129

Gene: TBX6

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.30091839C>A , CM000678.2:g.30091839C>A	GRCh38
NC_000016.9:g.30103160C>A , CM000678.1:g.30103160C>A	GRCh37
NC_000016.8:g.30010661C>A	NCBI36
NG_023283.1:g.5046G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004608.4:c.-49+34G>T MANE Select	NP_004599.2:n.-49+34G>T
ENST00000395224.7:c.-49+34G>T MANE Select	ENSP00000378650.2:n.-49+34G>T
NM_004608.3:c.-49+34G>T	NP_004599.2:n.-49+34G>T
ENST00000395224.6:c.-49+34G>T	ENSP00000378650.2:n.-49+34G>T
ENST00000553607.1:c.-646G>T	ENSP00000461223.1:n.-646G>T
XM_005255523.1:c.-265G>T	XP_005255580.1:n.-265G>T
XM_005255523.2:c.-265G>T	XP_005255580.1:n.-265G>T
XM_011545926.1:c.-428G>T	XP_011544228.1:n.-428G>T
XM_011545926.3:c.-428G>T	XP_011544228.1:n.-428G>T
XM_017023614.1:c.-56G>T	XP_016879103.1:n.-56G>T
XR_950840.1:n.99G>T
XR_950840.3:n.89G>T