Canonical Allele Identifier: CA373284450

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34649056T>A (hg19) ; chr9:g.34649059T>A (hg38)

Genomic Alleles

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

Transcript Alleles

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