Canonical Allele Identifier: CA374254524

Gene: BAAT

Linked Data

• MyVariant Identifiers: chr9:g.104125007G>C (hg19) ; chr9:g.101362725G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.101362725G>C , CM000671.2:g.101362725G>C	GRCh38
NC_000009.11:g.104125007G>C , CM000671.1:g.104125007G>C	GRCh37
NC_000009.10:g.103164828G>C	NCBI36
NG_009774.1:g.27281C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000259407.7:c.960C>G MANE Select	ENSP00000259407.2:p.Phe320Leu
ENST00000395051.4:c.960C>G	ENSP00000378491.3:p.Phe320Leu
ENST00000674556.1:c.960C>G	ENSP00000501610.1:p.Phe320Leu
ENST00000674791.1:c.762+198C>G	ENSP00000501644.1:n.762+198C>G
ENST00000674909.1:c.804+156C>G	ENSP00000502812.1:n.804+156C>G
ENST00000259407.6:c.960C>G	ENSP00000259407.2:p.Phe320Leu
ENST00000395051.3:c.960C>G	ENSP00000378491.3:p.Phe320Leu
NM_001127610.1:c.960C>G	NP_001121082.1:p.Phe320Leu
NM_001701.3:c.960C>G	NP_001692.1:p.Phe320Leu
NM_001127610.2:c.960C>G	NP_001121082.1:p.Phe320Leu
NM_001374715.1:c.960C>G	NP_001361644.1:p.Phe320Leu
NM_001701.4:c.960C>G MANE Select	NP_001692.1:p.Phe320Leu