Canonical Allele Identifier: CA5160598

Gene: BAAT

Linked Data

• dbSNP Id: rs767819794
• ExAC: 9:104124964 C / T
• gnomAD v2: 9-104124964-C-T
• gnomAD v4: 9-101362682-C-T
• MyVariant Identifiers: chr9:g.104124964C>T (hg19) ; chr9:g.101362682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362682C>T , CM000671.2:g.101362682C>T	GRCh38
NC_000009.11:g.104124964C>T , CM000671.1:g.104124964C>T	GRCh37
NC_000009.10:g.103164785C>T	NCBI36
NG_009774.1:g.27324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259407.7:c.1003G>A MANE Select	ENSP00000259407.2:p.Ala335Thr
ENST00000395051.4:c.1003G>A	ENSP00000378491.3:p.Ala335Thr
ENST00000674556.1:c.1003G>A	ENSP00000501610.1:p.Ala335Thr
ENST00000674791.1:c.762+241G>A	ENSP00000501644.1:n.762+241G>A
ENST00000674909.1:c.804+199G>A	ENSP00000502812.1:n.804+199G>A
ENST00000259407.6:c.1003G>A	ENSP00000259407.2:p.Ala335Thr
ENST00000395051.3:c.1003G>A	ENSP00000378491.3:p.Ala335Thr
NM_001127610.1:c.1003G>A	NP_001121082.1:p.Ala335Thr
NM_001701.3:c.1003G>A	NP_001692.1:p.Ala335Thr
NM_001127610.2:c.1003G>A	NP_001121082.1:p.Ala335Thr
NM_001374715.1:c.1003G>A	NP_001361644.1:p.Ala335Thr
NM_001701.4:c.1003G>A MANE Select	NP_001692.1:p.Ala335Thr