Canonical Allele Identifier: CA12485673

Gene: TBXAS1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.139828863G>T , CM000669.2:g.139828863G>T	GRCh38
NC_000007.13:g.139528662G>T , CM000669.1:g.139528662G>T	GRCh37
NC_000007.12:g.139175131G>T	NCBI36
NG_008422.2:g.55482G>T , LRG_579:g.55482G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001130966.2:c.-76-449G>T , LRG_579t1:c.-76-449G>T	NP_001124438.1:n.-76-449G>T
NM_001130966.3:c.-79-449G>T	NP_001124438.2:n.-79-449G>T
NM_001130966.4:c.-79-449G>T	NP_001124438.2:n.-79-449G>T
NM_001130966.5:c.-79-449G>T	NP_001124438.2:n.-79-449G>T
NM_001166254.1:c.-113+41437G>T , LRG_579t3:c.-113+41437G>T	NP_001159726.1:n.-113+41437G>T
NM_001166254.2:c.-113+41437G>T	NP_001159726.1:n.-113+41437G>T
NM_001166254.3:c.-113+41437G>T	NP_001159726.1:n.-113+41437G>T
NM_001166254.4:c.-113+41437G>T	NP_001159726.1:n.-113+41437G>T
ENST00000263552.10:c.-76-449G>T	ENSP00000263552.6:n.-76-449G>T
ENST00000336425.10:c.-79-449G>T	ENSP00000338087.7:n.-79-449G>T
ENST00000336425.9:c.-79-449G>T	ENSP00000338087.5:n.-79-449G>T
ENST00000416849.6:c.-76-449G>T	ENSP00000389414.2:n.-76-449G>T
ENST00000425687.5:c.-113+41437G>T	ENSP00000388736.1:n.-113+41437G>T
ENST00000438104.5:c.-79-449G>T	ENSP00000388612.1:n.-79-449G>T
ENST00000438104.6:c.-79-449G>T	ENSP00000388612.3:n.-79-449G>T
ENST00000650822.1:c.-76-449G>T	ENSP00000498517.1:n.-76-449G>T