Canonical Allele Identifier: CA5160607

Gene: BAAT

Linked Data

• dbSNP Id: rs746860454
• ExAC: 9:104125021 C / A
• gnomAD v2: 9-104125021-C-A
• gnomAD v4: 9-101362739-C-A
• MyVariant Identifiers: chr9:g.104125021C>A (hg19) ; chr9:g.101362739C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362739C>A , CM000671.2:g.101362739C>A	GRCh38
NC_000009.11:g.104125021C>A , CM000671.1:g.104125021C>A	GRCh37
NC_000009.10:g.103164842C>A	NCBI36
NG_009774.1:g.27267G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000259407.7:c.946G>T MANE Select	ENSP00000259407.2:p.Ala316Ser
ENST00000395051.4:c.946G>T	ENSP00000378491.3:p.Ala316Ser
ENST00000674556.1:c.946G>T	ENSP00000501610.1:p.Ala316Ser
ENST00000674791.1:c.762+184G>T	ENSP00000501644.1:n.762+184G>T
ENST00000674909.1:c.804+142G>T	ENSP00000502812.1:n.804+142G>T
ENST00000259407.6:c.946G>T	ENSP00000259407.2:p.Ala316Ser
ENST00000395051.3:c.946G>T	ENSP00000378491.3:p.Ala316Ser
NM_001127610.1:c.946G>T	NP_001121082.1:p.Ala316Ser
NM_001701.3:c.946G>T	NP_001692.1:p.Ala316Ser
NM_001127610.2:c.946G>T	NP_001121082.1:p.Ala316Ser
NM_001374715.1:c.946G>T	NP_001361644.1:p.Ala316Ser
NM_001701.4:c.946G>T MANE Select	NP_001692.1:p.Ala316Ser