Canonical Allele Identifier: CA373281701

Gene: GALT

Linked Data

• ClinVar Variation Id: 983983
• ClinVar RCV Id: RCV001263988
• dbSNP Id: rs1821157539
• MyVariant Identifiers: chr9:g.34648165C>A (hg19) ; chr9:g.34648168C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648168C>A , CM000671.2:g.34648168C>A	GRCh38
NC_000009.11:g.34648165C>A , CM000671.1:g.34648165C>A	GRCh37
NC_000009.10:g.34638165C>A	NCBI36
NG_009029.1:g.6531C>A
NG_028966.1:g.984C>A
NG_009029.2:g.6580C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*149C>A	ENSP00000509954.1:n.*149C>A
ENST00000378842.8:c.561C>A MANE Select	ENSP00000368119.4:p.Cys187Ter
ENST00000378842.7:c.561C>A	ENSP00000368119.3:p.Cys187Ter
ENST00000450095.6:c.234C>A	ENSP00000401956.2:p.Cys78Ter
ENST00000465543.6:n.900C>A
ENST00000472111.5:n.817C>A
ENST00000473506.6:c.*149C>A	ENSP00000432839.2:n.*149C>A
ENST00000473529.5:n.720C>A
ENST00000485531.1:n.1155C>A
ENST00000487381.5:n.946C>A
ENST00000489643.6:n.336C>A
ENST00000554085.5:c.*305C>A	ENSP00000450419.1:n.*305C>A
ENST00000554139.5:n.807C>A
ENST00000554550.5:c.*181C>A	ENSP00000451435.1:n.*181C>A
ENST00000554638.5:n.1033C>A
ENST00000554897.5:c.*248C>A	ENSP00000450942.1:n.*248C>A
ENST00000554944.5:n.910C>A
ENST00000555020.5:n.717C>A
ENST00000555086.5:n.565C>A
ENST00000555214.5:n.382C>A
ENST00000556244.1:c.548C>A
ENST00000556278.1:c.306C>A	ENSP00000451792.1:p.Cys102Ter
ENST00000556494.5:n.682C>A
ENST00000557706.5:n.1123C>A
NM_000155.3:c.561C>A	NP_000146.2:p.Cys187Ter
NM_001258332.1:c.234C>A	NP_001245261.1:p.Cys78Ter
NM_000155.4:c.561C>A MANE Select	NP_000146.2:p.Cys187Ter
NM_001258332.2:c.234C>A	NP_001245261.1:p.Cys78Ter