Canonical Allele Identifier: CA374254647

Gene: BAAT

Linked Data

• gnomAD v4: 9-101362781-T-A
• MyVariant Identifiers: chr9:g.104125063T>A (hg19) ; chr9:g.101362781T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362781T>A , CM000671.2:g.101362781T>A	GRCh38
NC_000009.11:g.104125063T>A , CM000671.1:g.104125063T>A	GRCh37
NC_000009.10:g.103164884T>A	NCBI36
NG_009774.1:g.27225A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259407.7:c.904A>T MANE Select	ENSP00000259407.2:p.Thr302Ser
ENST00000395051.4:c.904A>T	ENSP00000378491.3:p.Thr302Ser
ENST00000674556.1:c.904A>T	ENSP00000501610.1:p.Thr302Ser
ENST00000674791.1:c.762+142A>T	ENSP00000501644.1:n.762+142A>T
ENST00000674909.1:c.804+100A>T	ENSP00000502812.1:n.804+100A>T
ENST00000259407.6:c.904A>T	ENSP00000259407.2:p.Thr302Ser
ENST00000395051.3:c.904A>T	ENSP00000378491.3:p.Thr302Ser
NM_001127610.1:c.904A>T	NP_001121082.1:p.Thr302Ser
NM_001701.3:c.904A>T	NP_001692.1:p.Thr302Ser
NM_001127610.2:c.904A>T	NP_001121082.1:p.Thr302Ser
NM_001374715.1:c.904A>T	NP_001361644.1:p.Thr302Ser
NM_001701.4:c.904A>T MANE Select	NP_001692.1:p.Thr302Ser