Canonical Allele Identifier: CA1868214279
Community Standard Title: NM_001701.4(BAAT):c.59G= (p.Arg20=)
Gene: BAAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101371346C= , CM000671.2:g.101371346C= GRCh38
NC_000009.11:g.104133628C= , CM000671.1:g.104133628C= GRCh37
NC_000009.10:g.103173449C= NCBI36
NG_009774.1:g.18660G=

Transcript Alleles

HGVS Amino-acid Change
NM_001701.4:c.59G= MANE Select NP_001692.1:p.Arg20=
ENST00000259407.7:c.59G= MANE Select ENSP00000259407.2:p.Arg20=
NM_001127610.1:c.59G= NP_001121082.1:p.Arg20=
NM_001127610.2:c.59G= NP_001121082.1:p.Arg20=
NM_001374715.1:c.59G= NP_001361644.1:p.Arg20=
NM_001701.3:c.59G= NP_001692.1:p.Arg20=
ENST00000259407.6:c.59G= ENSP00000259407.2:p.Arg20=
ENST00000395051.3:c.59G= ENSP00000378491.3:p.Arg20=
ENST00000395051.4:c.59G= ENSP00000378491.3:p.Arg20=
ENST00000674556.1:c.59G= ENSP00000501610.1:p.Arg20=
ENST00000674791.1:c.59G= ENSP00000501644.1:p.Arg20=
ENST00000674909.1:c.59G= ENSP00000502812.1:p.Arg20=