Canonical Allele Identifier: CA374254495

Gene: BAAT

Linked Data

• dbSNP Id: rs1829754781
• gnomAD v4: 9-101362712-C-A
• MyVariant Identifiers: chr9:g.104124994C>A (hg19) ; chr9:g.101362712C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362712C>A , CM000671.2:g.101362712C>A	GRCh38
NC_000009.11:g.104124994C>A , CM000671.1:g.104124994C>A	GRCh37
NC_000009.10:g.103164815C>A	NCBI36
NG_009774.1:g.27294G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259407.7:c.973G>T MANE Select	ENSP00000259407.2:p.Gly325Ter
ENST00000395051.4:c.973G>T	ENSP00000378491.3:p.Gly325Ter
ENST00000674556.1:c.973G>T	ENSP00000501610.1:p.Gly325Ter
ENST00000674791.1:c.762+211G>T	ENSP00000501644.1:n.762+211G>T
ENST00000674909.1:c.804+169G>T	ENSP00000502812.1:n.804+169G>T
ENST00000259407.6:c.973G>T	ENSP00000259407.2:p.Gly325Ter
ENST00000395051.3:c.973G>T	ENSP00000378491.3:p.Gly325Ter
NM_001127610.1:c.973G>T	NP_001121082.1:p.Gly325Ter
NM_001701.3:c.973G>T	NP_001692.1:p.Gly325Ter
NM_001127610.2:c.973G>T	NP_001121082.1:p.Gly325Ter
NM_001374715.1:c.973G>T	NP_001361644.1:p.Gly325Ter
NM_001701.4:c.973G>T MANE Select	NP_001692.1:p.Gly325Ter