Canonical Allele Identifier: CA5160524

Gene: BAAT

Linked Data

• ClinVar Variation Id: 364275
• ClinVar RCV Id: RCV000298523 ; RCV001553897 ; RCV001683439
• dbSNP Id: rs2229594
• ExAC: 9:104124664 C / T
• gnomAD v2: 9-104124664-C-T
• gnomAD v3: 9-101362382-C-T
• gnomAD v4: 9-101362382-C-T
• MyVariant Identifiers: chr9:g.104124664C>T (hg19) ; chr9:g.101362382C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362382C>T , CM000671.2:g.101362382C>T	GRCh38
NC_000009.11:g.104124664C>T , CM000671.1:g.104124664C>T	GRCh37
NC_000009.10:g.103164485C>T	NCBI36
NG_009774.1:g.27624G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259407.7:c.*46G>A MANE Select	ENSP00000259407.2:n.*46G>A
ENST00000395051.4:c.*46G>A	ENSP00000378491.3:n.*46G>A
ENST00000674791.1:c.762+541G>A	ENSP00000501644.1:n.762+541G>A
ENST00000674909.1:c.804+499G>A	ENSP00000502812.1:n.804+499G>A
ENST00000259407.6:c.*46G>A	ENSP00000259407.2:n.*46G>A
ENST00000395051.3:c.*46G>A	ENSP00000378491.3:n.*46G>A
NM_001127610.1:c.*46G>A	NP_001121082.1:n.*46G>A
NM_001701.3:c.*46G>A	NP_001692.1:n.*46G>A
NM_001127610.2:c.*46G>A	NP_001121082.1:n.*46G>A
NM_001374715.1:c.*46G>A	NP_001361644.1:n.*46G>A
NM_001701.4:c.*46G>A MANE Select	NP_001692.1:n.*46G>A