Canonical Allele Identifier: CA374254570

Gene: BAAT

Linked Data

• MyVariant Identifiers: chr9:g.104125027C>G (hg19) ; chr9:g.101362745C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362745C>G , CM000671.2:g.101362745C>G	GRCh38
NC_000009.11:g.104125027C>G , CM000671.1:g.104125027C>G	GRCh37
NC_000009.10:g.103164848C>G	NCBI36
NG_009774.1:g.27261G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259407.7:c.940G>C MANE Select	ENSP00000259407.2:p.Glu314Gln
ENST00000395051.4:c.940G>C	ENSP00000378491.3:p.Glu314Gln
ENST00000674556.1:c.940G>C	ENSP00000501610.1:p.Glu314Gln
ENST00000674791.1:c.762+178G>C	ENSP00000501644.1:n.762+178G>C
ENST00000674909.1:c.804+136G>C	ENSP00000502812.1:n.804+136G>C
ENST00000259407.6:c.940G>C	ENSP00000259407.2:p.Glu314Gln
ENST00000395051.3:c.940G>C	ENSP00000378491.3:p.Glu314Gln
NM_001127610.1:c.940G>C	NP_001121082.1:p.Glu314Gln
NM_001701.3:c.940G>C	NP_001692.1:p.Glu314Gln
NM_001127610.2:c.940G>C	NP_001121082.1:p.Glu314Gln
NM_001374715.1:c.940G>C	NP_001361644.1:p.Glu314Gln
NM_001701.4:c.940G>C MANE Select	NP_001692.1:p.Glu314Gln