Canonical Allele Identifier: CA374254581

Gene: BAAT

Linked Data

• dbSNP Id: rs1312757367
• gnomAD v3: 9-101362750-G-T
• gnomAD v4: 9-101362750-G-T
• MyVariant Identifiers: chr9:g.104125032G>T (hg19) ; chr9:g.101362750G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362750G>T , CM000671.2:g.101362750G>T	GRCh38
NC_000009.11:g.104125032G>T , CM000671.1:g.104125032G>T	GRCh37
NC_000009.10:g.103164853G>T	NCBI36
NG_009774.1:g.27256C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259407.7:c.935C>A MANE Select	ENSP00000259407.2:p.Pro312His
ENST00000395051.4:c.935C>A	ENSP00000378491.3:p.Pro312His
ENST00000674556.1:c.935C>A	ENSP00000501610.1:p.Pro312His
ENST00000674791.1:c.762+173C>A	ENSP00000501644.1:n.762+173C>A
ENST00000674909.1:c.804+131C>A	ENSP00000502812.1:n.804+131C>A
ENST00000259407.6:c.935C>A	ENSP00000259407.2:p.Pro312His
ENST00000395051.3:c.935C>A	ENSP00000378491.3:p.Pro312His
NM_001127610.1:c.935C>A	NP_001121082.1:p.Pro312His
NM_001701.3:c.935C>A	NP_001692.1:p.Pro312His
NM_001127610.2:c.935C>A	NP_001121082.1:p.Pro312His
NM_001374715.1:c.935C>A	NP_001361644.1:p.Pro312His
NM_001701.4:c.935C>A MANE Select	NP_001692.1:p.Pro312His