Canonical Allele Identifier: CA5160688

Gene: BAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101368243G>A , CM000671.2:g.101368243G>A	GRCh38
NC_000009.11:g.104130525G>A , CM000671.1:g.104130525G>A	GRCh37
NC_000009.10:g.103170346G>A	NCBI36
NG_009774.1:g.21763C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001701.4:c.546C>T MANE Select	NP_001692.1:p.Ala182=
ENST00000259407.7:c.546C>T MANE Select	ENSP00000259407.2:p.Ala182=
NM_001127610.1:c.546C>T	NP_001121082.1:p.Ala182=
NM_001127610.2:c.546C>T	NP_001121082.1:p.Ala182=
NM_001374715.1:c.546C>T	NP_001361644.1:p.Ala182=
NM_001701.3:c.546C>T	NP_001692.1:p.Ala182=
ENST00000259407.6:c.546C>T	ENSP00000259407.2:p.Ala182=
ENST00000395051.3:c.546C>T	ENSP00000378491.3:p.Ala182=
ENST00000395051.4:c.546C>T	ENSP00000378491.3:p.Ala182=
ENST00000674556.1:c.546C>T	ENSP00000501610.1:p.Ala182=
ENST00000674791.1:c.546C>T	ENSP00000501644.1:p.Ala182=
ENST00000674909.1:c.546C>T	ENSP00000502812.1:p.Ala182=