Canonical Allele Identifier: CA1868206897
Community Standard Title: NM_001701.4(BAAT):c.761C= (p.Thr254=)
Gene: BAAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101362924G= , CM000671.2:g.101362924G= GRCh38
NC_000009.11:g.104125206G= , CM000671.1:g.104125206G= GRCh37
NC_000009.10:g.103165027G= NCBI36
NG_009774.1:g.27082C=

Transcript Alleles

HGVS Amino-acid Change
NM_001701.4:c.761C= MANE Select NP_001692.1:p.Thr254=
ENST00000259407.7:c.761C= MANE Select ENSP00000259407.2:p.Thr254=
NM_001127610.1:c.761C= NP_001121082.1:p.Thr254=
NM_001127610.2:c.761C= NP_001121082.1:p.Thr254=
NM_001374715.1:c.761C= NP_001361644.1:p.Thr254=
NM_001701.3:c.761C= NP_001692.1:p.Thr254=
ENST00000259407.6:c.761C= ENSP00000259407.2:p.Thr254=
ENST00000395051.3:c.761C= ENSP00000378491.3:p.Thr254=
ENST00000395051.4:c.761C= ENSP00000378491.3:p.Thr254=
ENST00000674556.1:c.761C= ENSP00000501610.1:p.Thr254=
ENST00000674791.1:c.761C= ENSP00000501644.1:p.Thr254=
ENST00000674909.1:c.761C= ENSP00000502812.1:p.Thr254=