Canonical Allele Identifier: CA259433

Gene: GALT

Linked Data

• ClinVar Variation Id: 25210
• ClinVar RCV Id: RCV000022146 ; RCV000493954 ; RCV001835632
• dbSNP Id: rs111033717
• gnomAD v4: 9-34648159-C-A
• MyVariant Identifiers: chr9:g.34648156C>A (hg19) ; chr9:g.34648159C>A (hg38)
• PubMed: PMID:10408771

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648159C>A , CM000671.2:g.34648159C>A	GRCh38
NC_000009.11:g.34648156C>A , CM000671.1:g.34648156C>A	GRCh37
NC_000009.10:g.34638156C>A	NCBI36
NG_009029.1:g.6522C>A
NG_028966.1:g.975C>A
NG_009029.2:g.6571C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*140C>A	ENSP00000509954.1:n.*140C>A
ENST00000378842.8:c.552C>A MANE Select	ENSP00000368119.4:p.His184Gln
ENST00000378842.7:c.552C>A	ENSP00000368119.3:p.His184Gln
ENST00000450095.6:c.225C>A	ENSP00000401956.2:p.His75Gln
ENST00000465543.6:n.891C>A
ENST00000472111.5:n.808C>A
ENST00000473506.6:c.*140C>A	ENSP00000432839.2:n.*140C>A
ENST00000473529.5:n.711C>A
ENST00000485531.1:n.1146C>A
ENST00000487381.5:n.937C>A
ENST00000489643.6:n.327C>A
ENST00000554085.5:c.*296C>A	ENSP00000450419.1:n.*296C>A
ENST00000554139.5:n.798C>A
ENST00000554550.5:c.*172C>A	ENSP00000451435.1:n.*172C>A
ENST00000554638.5:n.1024C>A
ENST00000554897.5:c.*239C>A	ENSP00000450942.1:n.*239C>A
ENST00000554944.5:n.901C>A
ENST00000555020.5:n.708C>A
ENST00000555086.5:n.556C>A
ENST00000555214.5:n.373C>A
ENST00000556244.1:c.539C>A
ENST00000556278.1:c.297C>A	ENSP00000451792.1:p.His99Gln
ENST00000556494.5:n.673C>A
ENST00000557706.5:n.1114C>A
NM_000155.3:c.552C>A	NP_000146.2:p.His184Gln
NM_001258332.1:c.225C>A	NP_001245261.1:p.His75Gln
NM_000155.4:c.552C>A MANE Select	NP_000146.2:p.His184Gln
NM_001258332.2:c.225C>A	NP_001245261.1:p.His75Gln