Canonical Allele Identifier: CA1868206728
Community Standard Title: NM_001701.4(BAAT):c.858C= (p.Ser286=)
Gene: BAAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101362827G= , CM000671.2:g.101362827G= GRCh38
NC_000009.11:g.104125109G= , CM000671.1:g.104125109G= GRCh37
NC_000009.10:g.103164930G= NCBI36
NG_009774.1:g.27179C=

Transcript Alleles

HGVS Amino-acid Change
NM_001701.4:c.858C= MANE Select NP_001692.1:p.Ser286=
ENST00000259407.7:c.858C= MANE Select ENSP00000259407.2:p.Ser286=
NM_001127610.1:c.858C= NP_001121082.1:p.Ser286=
NM_001127610.2:c.858C= NP_001121082.1:p.Ser286=
NM_001374715.1:c.858C= NP_001361644.1:p.Ser286=
NM_001701.3:c.858C= NP_001692.1:p.Ser286=
ENST00000259407.6:c.858C= ENSP00000259407.2:p.Ser286=
ENST00000395051.3:c.858C= ENSP00000378491.3:p.Ser286=
ENST00000395051.4:c.858C= ENSP00000378491.3:p.Ser286=
ENST00000674556.1:c.858C= ENSP00000501610.1:p.Ser286=
ENST00000674791.1:c.762+96C= ENSP00000501644.1:n.762+96C=
ENST00000674909.1:c.804+54C= ENSP00000502812.1:n.804+54C=