Canonical Allele Identifier: CA259509

Gene: GALT

Linked Data

• ClinVar Variation Id: 25269
• ClinVar RCV Id: RCV000022211 ; RCV000723491 ; RCV001826500
• dbSNP Id: rs111033768
• gnomAD v4: 9-34648907-A-G
• MyVariant Identifiers: chr9:g.34648904A>G (hg19) ; chr9:g.34648907A>G (hg38)
• PubMed: PMID:10649501 ; PMID:23749220 ; PMID:23891399 ; PMID:25052314

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648907A>G , CM000671.2:g.34648907A>G	GRCh38
NC_000009.11:g.34648904A>G , CM000671.1:g.34648904A>G	GRCh37
NC_000009.10:g.34638904A>G	NCBI36
NG_009029.1:g.7270A>G
NG_028966.1:g.1723A>G
NG_009029.2:g.7319A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*408+13A>G	ENSP00000509954.1:n.*408+13A>G
ENST00000378842.8:c.820+13A>G MANE Select	ENSP00000368119.4:n.820+13A>G
ENST00000378842.7:c.820+13A>G	ENSP00000368119.3:n.820+13A>G
ENST00000450095.6:c.493+13A>G	ENSP00000401956.2:n.493+13A>G
ENST00000489643.6:n.900+13A>G
ENST00000554085.5:c.*564+13A>G	ENSP00000450419.1:n.*564+13A>G
ENST00000554550.5:c.*440+13A>G	ENSP00000451435.1:n.*440+13A>G
ENST00000554638.5:n.1292+13A>G
ENST00000555020.5:n.1281+13A>G
ENST00000555086.5:n.837A>G
ENST00000555754.1:n.178A>G
ENST00000556278.1:c.432+451A>G	ENSP00000451792.1:n.432+451A>G
ENST00000557706.5:n.1395A>G
NM_000155.3:c.820+13A>G	NP_000146.2:n.820+13A>G
NM_001258332.1:c.493+13A>G	NP_001245261.1:n.493+13A>G
NM_000155.4:c.820+13A>G MANE Select	NP_000146.2:n.820+13A>G
NM_001258332.2:c.493+13A>G	NP_001245261.1:n.493+13A>G