Canonical Allele Identifier: CA374254508

Gene: BAAT

Linked Data

• MyVariant Identifiers: chr9:g.104125000T>A (hg19) ; chr9:g.101362718T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000259407.7:c.967A>T MANE Select	ENSP00000259407.2:p.Ile323Phe
ENST00000395051.4:c.967A>T	ENSP00000378491.3:p.Ile323Phe
ENST00000674556.1:c.967A>T	ENSP00000501610.1:p.Ile323Phe
ENST00000674791.1:c.762+205A>T	ENSP00000501644.1:n.762+205A>T
ENST00000674909.1:c.804+163A>T	ENSP00000502812.1:n.804+163A>T
ENST00000259407.6:c.967A>T	ENSP00000259407.2:p.Ile323Phe
ENST00000395051.3:c.967A>T	ENSP00000378491.3:p.Ile323Phe
NM_001127610.1:c.967A>T	NP_001121082.1:p.Ile323Phe
NM_001701.3:c.967A>T	NP_001692.1:p.Ile323Phe
NM_001127610.2:c.967A>T	NP_001121082.1:p.Ile323Phe
NM_001374715.1:c.967A>T	NP_001361644.1:p.Ile323Phe
NM_001701.4:c.967A>T MANE Select	NP_001692.1:p.Ile323Phe