Canonical Allele Identifier: CA341872
Gene: BAAT HGNC NCBI

Linked Data

ClinVar Variation Id: 21301
ClinVar RCV Id: RCV000020464
dbSNP Id: rs80356747
MyVariant Identifiers: chr9:g.104125000T>C (hg19) chr9:g.101362718T>C (hg38)
PubMed: PMID:17182750 PMID:20301541
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.101362718T>C , CM000671.2:g.101362718T>C GRCh38
NC_000009.11:g.104125000T>C , CM000671.1:g.104125000T>C GRCh37
NC_000009.10:g.103164821T>C NCBI36
NG_009774.1:g.27288A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000259407.7:c.967A>G MANE Select ENSP00000259407.2:p.Ile323Val
ENST00000395051.4:c.967A>G ENSP00000378491.3:p.Ile323Val
ENST00000674556.1:c.967A>G ENSP00000501610.1:p.Ile323Val
ENST00000674791.1:c.762+205A>G ENSP00000501644.1:n.762+205A>G
ENST00000674909.1:c.804+163A>G ENSP00000502812.1:n.804+163A>G
ENST00000259407.6:c.967A>G ENSP00000259407.2:p.Ile323Val
ENST00000395051.3:c.967A>G ENSP00000378491.3:p.Ile323Val
NM_001127610.1:c.967A>G NP_001121082.1:p.Ile323Val
NM_001701.3:c.967A>G NP_001692.1:p.Ile323Val
NM_001127610.2:c.967A>G NP_001121082.1:p.Ile323Val
NM_001374715.1:c.967A>G NP_001361644.1:p.Ile323Val
NM_001701.4:c.967A>G MANE Select NP_001692.1:p.Ile323Val
Search 100 bp 5'
Search 100 bp 3'