Canonical Allele Identifier: CA373284452

Gene: GALT

Linked Data

• gnomAD v4: 9-34649059-T-G
• MyVariant Identifiers: chr9:g.34649056T>G (hg19) ; chr9:g.34649059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649059T>G , CM000671.2:g.34649059T>G	GRCh38
NC_000009.11:g.34649056T>G , CM000671.1:g.34649056T>G	GRCh37
NC_000009.10:g.34639056T>G	NCBI36
NG_009029.1:g.7422T>G
NG_028966.1:g.1875T>G
NG_009029.2:g.7471T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*470T>G	ENSP00000509954.1:n.*470T>G
ENST00000378842.8:c.882T>G MANE Select	ENSP00000368119.4:p.Phe294Leu
ENST00000378842.7:c.882T>G	ENSP00000368119.3:p.Phe294Leu
ENST00000450095.6:c.555T>G	ENSP00000401956.2:p.Phe185Leu
ENST00000488412.2:n.138T>G
ENST00000489643.6:n.962T>G
ENST00000554550.5:c.*502T>G	ENSP00000451435.1:n.*502T>G
ENST00000554638.5:n.1354T>G
ENST00000555020.5:n.1343T>G
ENST00000555086.5:n.989T>G
ENST00000555754.1:n.330T>G
ENST00000556278.1:c.432+603T>G	ENSP00000451792.1:n.432+603T>G
ENST00000557706.5:n.1457T>G
NM_000155.3:c.882T>G	NP_000146.2:p.Phe294Leu
NM_001258332.1:c.555T>G	NP_001245261.1:p.Phe185Leu
NM_000155.4:c.882T>G MANE Select	NP_000146.2:p.Phe294Leu
NM_001258332.2:c.555T>G	NP_001245261.1:p.Phe185Leu