Canonical Allele Identifier: CA1868214036
Community Standard Title: NM_001701.4(BAAT):c.226A= (p.Met76=)
Gene: BAAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101371179T= , CM000671.2:g.101371179T= GRCh38
NC_000009.11:g.104133461T= , CM000671.1:g.104133461T= GRCh37
NC_000009.10:g.103173282T= NCBI36
NG_009774.1:g.18827A=

Transcript Alleles

HGVS Amino-acid Change
NM_001701.4:c.226A= MANE Select NP_001692.1:p.Met76=
ENST00000259407.7:c.226A= MANE Select ENSP00000259407.2:p.Met76=
NM_001127610.1:c.226A= NP_001121082.1:p.Met76=
NM_001127610.2:c.226A= NP_001121082.1:p.Met76=
NM_001374715.1:c.226A= NP_001361644.1:p.Met76=
NM_001701.3:c.226A= NP_001692.1:p.Met76=
ENST00000259407.6:c.226A= ENSP00000259407.2:p.Met76=
ENST00000395051.3:c.226A= ENSP00000378491.3:p.Met76=
ENST00000395051.4:c.226A= ENSP00000378491.3:p.Met76=
ENST00000674556.1:c.226A= ENSP00000501610.1:p.Met76=
ENST00000674791.1:c.226A= ENSP00000501644.1:p.Met76=
ENST00000674909.1:c.226A= ENSP00000502812.1:p.Met76=