Canonical Allele Identifier: CA373284492

Gene: GALT

Linked Data

• gnomAD v4: 9-34649067-C-T
• MyVariant Identifiers: chr9:g.34649064C>T (hg19) ; chr9:g.34649067C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649067C>T , CM000671.2:g.34649067C>T	GRCh38
NC_000009.11:g.34649064C>T , CM000671.1:g.34649064C>T	GRCh37
NC_000009.10:g.34639064C>T	NCBI36
NG_009029.1:g.7430C>T
NG_028966.1:g.1883C>T
NG_009029.2:g.7479C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*478C>T	ENSP00000509954.1:n.*478C>T
ENST00000378842.8:c.890C>T MANE Select	ENSP00000368119.4:p.Ser297Phe
ENST00000378842.7:c.890C>T	ENSP00000368119.3:p.Ser297Phe
ENST00000450095.6:c.563C>T	ENSP00000401956.2:p.Ser188Phe
ENST00000488412.2:n.146C>T
ENST00000489643.6:n.970C>T
ENST00000554550.5:c.*510C>T	ENSP00000451435.1:n.*510C>T
ENST00000554638.5:n.1362C>T
ENST00000555020.5:n.1351C>T
ENST00000555086.5:n.997C>T
ENST00000555754.1:n.338C>T
ENST00000556278.1:c.432+611C>T	ENSP00000451792.1:n.432+611C>T
ENST00000557706.5:n.1465C>T
NM_000155.3:c.890C>T	NP_000146.2:p.Ser297Phe
NM_001258332.1:c.563C>T	NP_001245261.1:p.Ser188Phe
NM_000155.4:c.890C>T MANE Select	NP_000146.2:p.Ser297Phe
NM_001258332.2:c.563C>T	NP_001245261.1:p.Ser188Phe