Canonical Allele Identifier: CA259514

Gene: GALT

Linked Data

• dbSNP Id: rs111033778
• gnomAD v4: 9-34649010-T-A
• MyVariant Identifiers: chr9:g.34649007T>A (hg19) ; chr9:g.34649010T>A (hg38)
• PubMed: PMID:17876724

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649010T>A , CM000671.2:g.34649010T>A	GRCh38
NC_000009.11:g.34649007T>A , CM000671.1:g.34649007T>A	GRCh37
NC_000009.10:g.34639007T>A	NCBI36
NG_009029.1:g.7373T>A
NG_028966.1:g.1826T>A
NG_009029.2:g.7422T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*421T>A	ENSP00000509954.1:n.*421T>A
ENST00000378842.8:c.833T>A MANE Select	ENSP00000368119.4:p.Ile278Asn
ENST00000378842.7:c.833T>A	ENSP00000368119.3:p.Ile278Asn
ENST00000450095.6:c.506T>A	ENSP00000401956.2:p.Ile169Asn
ENST00000488412.2:n.89T>A
ENST00000489643.6:n.913T>A
ENST00000554085.5:c.*577T>A	ENSP00000450419.1:n.*577T>A
ENST00000554550.5:c.*453T>A	ENSP00000451435.1:n.*453T>A
ENST00000554638.5:n.1305T>A
ENST00000555020.5:n.1294T>A
ENST00000555086.5:n.940T>A
ENST00000555754.1:n.281T>A
ENST00000556278.1:c.432+554T>A	ENSP00000451792.1:n.432+554T>A
ENST00000557706.5:n.1408T>A
NM_000155.3:c.833T>A	NP_000146.2:p.Ile278Asn
NM_001258332.1:c.506T>A	NP_001245261.1:p.Ile169Asn
NM_000155.4:c.833T>A MANE Select	NP_000146.2:p.Ile278Asn
NM_001258332.2:c.506T>A	NP_001245261.1:p.Ile169Asn