Canonical Allele Identifier: CA10603771

Gene: GALT

Linked Data

• ClinVar Variation Id: 280989
• ClinVar RCV Id: RCV000319697 ; RCV000723422 ; RCV001828172
• dbSNP Id: rs886042070
• gnomAD v4: 9-34648850-G-A
• MyVariant Identifiers: chr9:g.34648847G>A (hg19) ; chr9:g.34648850G>A (hg38)
• PubMed: PMID:19224951 ; PMID:22461411 ; PMID:23418865 ; PMID:23891399 ; PMID:27005423 ; PMID:27603904

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648850G>A , CM000671.2:g.34648850G>A	GRCh38
NC_000009.11:g.34648847G>A , CM000671.1:g.34648847G>A	GRCh37
NC_000009.10:g.34638847G>A	NCBI36
NG_009029.1:g.7212G>A
NG_028966.1:g.1666G>A
NG_009029.2:g.7262G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*364G>A	ENSP00000509954.1:n.*364G>A
ENST00000378842.8:c.776G>A MANE Select	ENSP00000368119.4:p.Arg259Gln
ENST00000378842.7:c.776G>A	ENSP00000368119.3:p.Arg259Gln
ENST00000450095.6:c.449G>A	ENSP00000401956.2:p.Arg150Gln
ENST00000473506.6:c.*364G>A	ENSP00000432839.2:n.*364G>A
ENST00000489643.6:n.856G>A
ENST00000554085.5:c.*520G>A	ENSP00000450419.1:n.*520G>A
ENST00000554550.5:c.*396G>A	ENSP00000451435.1:n.*396G>A
ENST00000554638.5:n.1248G>A
ENST00000555020.5:n.1237G>A
ENST00000555086.5:n.780G>A
ENST00000555754.1:n.121G>A
ENST00000556244.1:c.763G>A
ENST00000556278.1:c.432+394G>A	ENSP00000451792.1:n.432+394G>A
ENST00000557706.5:n.1338G>A
NM_000155.3:c.776G>A	NP_000146.2:p.Arg259Gln
NM_001258332.1:c.449G>A	NP_001245261.1:p.Arg150Gln
NM_000155.4:c.776G>A MANE Select	NP_000146.2:p.Arg259Gln
NM_001258332.2:c.449G>A	NP_001245261.1:p.Arg150Gln