Canonical Allele Identifier: CA1868206629

Gene: BAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362757A= , CM000671.2:g.101362757A=	GRCh38
NC_000009.11:g.104125039A= , CM000671.1:g.104125039A=	GRCh37
NC_000009.10:g.103164860A=	NCBI36
NG_009774.1:g.27249T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259407.7:c.928T= MANE Select	ENSP00000259407.2:p.Leu310=
ENST00000395051.4:c.928T=	ENSP00000378491.3:p.Leu310=
ENST00000674556.1:c.928T=	ENSP00000501610.1:p.Leu310=
ENST00000674791.1:c.762+166T=	ENSP00000501644.1:n.762+166T=
ENST00000674909.1:c.804+124T=	ENSP00000502812.1:n.804+124T=
ENST00000259407.6:c.928T=	ENSP00000259407.2:p.Leu310=
ENST00000395051.3:c.928T=	ENSP00000378491.3:p.Leu310=
NM_001127610.1:c.928T=	NP_001121082.1:p.Leu310=
NM_001701.3:c.928T=	NP_001692.1:p.Leu310=
NM_001127610.2:c.928T=	NP_001121082.1:p.Leu310=
NM_001374715.1:c.928T=	NP_001361644.1:p.Leu310=
NM_001701.4:c.928T= MANE Select	NP_001692.1:p.Leu310=