Canonical Allele Identifier: CA1868206428
Gene: BAAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101362673C= , CM000671.2:g.101362673C= GRCh38
NC_000009.11:g.104124955C= , CM000671.1:g.104124955C= GRCh37
NC_000009.10:g.103164776C= NCBI36
NG_009774.1:g.27333G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000259407.7:c.1012G= MANE Select ENSP00000259407.2:p.Glu338=
ENST00000395051.4:c.1012G= ENSP00000378491.3:p.Glu338=
ENST00000674556.1:c.1012G= ENSP00000501610.1:p.Glu338=
ENST00000674791.1:c.762+250G= ENSP00000501644.1:n.762+250G=
ENST00000674909.1:c.804+208G= ENSP00000502812.1:n.804+208G=
ENST00000259407.6:c.1012G= ENSP00000259407.2:p.Glu338=
ENST00000395051.3:c.1012G= ENSP00000378491.3:p.Glu338=
NM_001127610.1:c.1012G= NP_001121082.1:p.Glu338=
NM_001701.3:c.1012G= NP_001692.1:p.Glu338=
NM_001127610.2:c.1012G= NP_001121082.1:p.Glu338=
NM_001374715.1:c.1012G= NP_001361644.1:p.Glu338=
NM_001701.4:c.1012G= MANE Select NP_001692.1:p.Glu338=