Canonical Allele Identifier: CA373284570

Gene: GALT

Linked Data

• dbSNP Id: rs1453548821
• gnomAD v2: 9-34649078-G-A
• gnomAD v4: 9-34649081-G-A
• MyVariant Identifiers: chr9:g.34649078G>A (hg19) ; chr9:g.34649081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649081G>A , CM000671.2:g.34649081G>A	GRCh38
NC_000009.11:g.34649078G>A , CM000671.1:g.34649078G>A	GRCh37
NC_000009.10:g.34639078G>A	NCBI36
NG_009029.1:g.7444G>A
NG_028966.1:g.1897G>A
NG_009029.2:g.7493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*492G>A	ENSP00000509954.1:n.*492G>A
ENST00000378842.8:c.904G>A MANE Select	ENSP00000368119.4:p.Gly302Arg
ENST00000378842.7:c.904G>A	ENSP00000368119.3:p.Gly302Arg
ENST00000450095.6:c.577G>A	ENSP00000401956.2:p.Gly193Arg
ENST00000488412.2:n.160G>A
ENST00000489643.6:n.984G>A
ENST00000554550.5:c.*524G>A	ENSP00000451435.1:n.*524G>A
ENST00000554638.5:n.1376G>A
ENST00000555020.5:n.1365G>A
ENST00000555086.5:n.1011G>A
ENST00000555754.1:n.352G>A
ENST00000556278.1:c.432+625G>A	ENSP00000451792.1:n.432+625G>A
ENST00000557706.5:n.1479G>A
NM_000155.3:c.904G>A	NP_000146.2:p.Gly302Arg
NM_001258332.1:c.577G>A	NP_001245261.1:p.Gly193Arg
NM_000155.4:c.904G>A MANE Select	NP_000146.2:p.Gly302Arg
NM_001258332.2:c.577G>A	NP_001245261.1:p.Gly193Arg