Canonical Allele Identifier: CA5036218

Gene: GALT

Linked Data

• ClinVar Variation Id: 550184
• ClinVar RCV Id: RCV000664855 ; RCV001835067 ; RCV003403535
• dbSNP Id: rs111033766
• ExAC: 9:34648885 C / T
• gnomAD v2: 9-34648885-C-T
• gnomAD v3: 9-34648888-C-T
• gnomAD v4: 9-34648888-C-T
• MyVariant Identifiers: chr9:g.34648885C>T (hg19) ; chr9:g.34648888C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648888C>T , CM000671.2:g.34648888C>T	GRCh38
NC_000009.11:g.34648885C>T , CM000671.1:g.34648885C>T	GRCh37
NC_000009.10:g.34638885C>T	NCBI36
NG_009029.1:g.7251C>T
NG_028966.1:g.1704C>T
NG_009029.2:g.7300C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*402C>T	ENSP00000509954.1:n.*402C>T
ENST00000378842.8:c.814C>T MANE Select	ENSP00000368119.4:p.Arg272Cys
ENST00000378842.7:c.814C>T	ENSP00000368119.3:p.Arg272Cys
ENST00000450095.6:c.487C>T	ENSP00000401956.2:p.Arg163Cys
ENST00000473506.6:c.*402C>T	ENSP00000432839.2:n.*402C>T
ENST00000489643.6:n.894C>T
ENST00000554085.5:c.*558C>T	ENSP00000450419.1:n.*558C>T
ENST00000554550.5:c.*434C>T	ENSP00000451435.1:n.*434C>T
ENST00000554638.5:n.1286C>T
ENST00000555020.5:n.1275C>T
ENST00000555086.5:n.818C>T
ENST00000555754.1:n.159C>T
ENST00000556244.1:c.801C>T
ENST00000556278.1:c.432+432C>T	ENSP00000451792.1:n.432+432C>T
ENST00000557706.5:n.1376C>T
NM_000155.3:c.814C>T	NP_000146.2:p.Arg272Cys
NM_001258332.1:c.487C>T	NP_001245261.1:p.Arg163Cys
NM_000155.4:c.814C>T MANE Select	NP_000146.2:p.Arg272Cys
NM_001258332.2:c.487C>T	NP_001245261.1:p.Arg163Cys