Canonical Allele Identifier: CA373278465

Gene: GALT

Linked Data

• ClinVar Variation Id: 1476671
• ClinVar RCV Id: RCV001998181
• dbSNP Id: rs2132341442
• gnomAD v4: 9-34647092-A-G
• MyVariant Identifiers: chr9:g.34647089A>G (hg19) ; chr9:g.34647092A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647092A>G , CM000671.2:g.34647092A>G	GRCh38
NC_000009.11:g.34647089A>G , CM000671.1:g.34647089A>G	GRCh37
NC_000009.10:g.34637089A>G	NCBI36
NG_009029.1:g.5455A>G
NG_009029.2:g.5504A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.86A>G	ENSP00000509954.1:p.His29Arg
ENST00000378842.8:c.86A>G MANE Select	ENSP00000368119.4:p.His29Arg
ENST00000378842.7:c.86A>G	ENSP00000368119.3:p.His29Arg
ENST00000450095.6:c.-117A>G	ENSP00000401956.2:n.-117A>G
ENST00000465543.6:n.425A>G
ENST00000468099.2:n.155-29A>G
ENST00000472111.5:n.127A>G
ENST00000473506.6:c.86A>G	ENSP00000432839.2:p.His29Arg
ENST00000473529.5:n.133A>G
ENST00000485531.1:n.79A>G
ENST00000487381.5:n.112A>G
ENST00000489643.6:n.116A>G
ENST00000554085.5:c.86A>G	ENSP00000450419.1:p.His29Arg
ENST00000554139.5:n.139A>G
ENST00000554330.5:n.83A>G
ENST00000554550.5:c.86A>G	ENSP00000451435.1:p.His29Arg
ENST00000554638.5:n.110A>G
ENST00000554897.5:c.86A>G	ENSP00000450942.1:p.His29Arg
ENST00000554944.5:n.116A>G
ENST00000555020.5:n.116A>G
ENST00000555086.5:n.90A>G
ENST00000555214.5:n.95A>G
ENST00000556157.1:n.193A>G
ENST00000556278.1:c.86A>G	ENSP00000451792.1:p.His29Arg
ENST00000556403.5:n.99A>G
ENST00000556494.5:n.118A>G
ENST00000557541.5:n.279A>G
ENST00000557706.5:n.200A>G
ENST00000605275.1:n.624A>G
NM_000155.3:c.86A>G	NP_000146.2:p.His29Arg
NM_001258332.1:c.-117A>G	NP_001245261.1:n.-117A>G
NM_000155.4:c.86A>G MANE Select	NP_000146.2:p.His29Arg
NM_001258332.2:c.-117A>G	NP_001245261.1:n.-117A>G