Canonical Allele Identifier: CA5036234

Gene: GALT

Linked Data

• ClinVar Variation Id: 500367
• ClinVar RCV Id: RCV002265816
• dbSNP Id: rs111033778
• ExAC: 9:34649007 T / C
• gnomAD v2: 9-34649007-T-C
• gnomAD v3: 9-34649010-T-C
• gnomAD v4: 9-34649010-T-C
• MyVariant Identifiers: chr9:g.34649007T>C (hg19) ; chr9:g.34649010T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*421T>C	ENSP00000509954.1:n.*421T>C
ENST00000378842.8:c.833T>C MANE Select	ENSP00000368119.4:p.Ile278Thr
ENST00000378842.7:c.833T>C	ENSP00000368119.3:p.Ile278Thr
ENST00000450095.6:c.506T>C	ENSP00000401956.2:p.Ile169Thr
ENST00000488412.2:n.89T>C
ENST00000489643.6:n.913T>C
ENST00000554085.5:c.*577T>C	ENSP00000450419.1:n.*577T>C
ENST00000554550.5:c.*453T>C	ENSP00000451435.1:n.*453T>C
ENST00000554638.5:n.1305T>C
ENST00000555020.5:n.1294T>C
ENST00000555086.5:n.940T>C
ENST00000555754.1:n.281T>C
ENST00000556278.1:c.432+554T>C	ENSP00000451792.1:n.432+554T>C
ENST00000557706.5:n.1408T>C
NM_000155.3:c.833T>C	NP_000146.2:p.Ile278Thr
NM_001258332.1:c.506T>C	NP_001245261.1:p.Ile169Thr
NM_000155.4:c.833T>C MANE Select	NP_000146.2:p.Ile278Thr
NM_001258332.2:c.506T>C	NP_001245261.1:p.Ile169Thr