Canonical Allele Identifier: CA373281395

Gene: GALT

Linked Data

• ClinVar Variation Id: 2683038
• ClinVar RCV Id: RCV003481905
• dbSNP Id: rs1297252490
• gnomAD v3: 9-34648126-C-G
• gnomAD v4: 9-34648126-C-G
• MyVariant Identifiers: chr9:g.34648123C>G (hg19) ; chr9:g.34648126C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648126C>G , CM000671.2:g.34648126C>G	GRCh38
NC_000009.11:g.34648123C>G , CM000671.1:g.34648123C>G	GRCh37
NC_000009.10:g.34638123C>G	NCBI36
NG_009029.1:g.6489C>G
NG_028966.1:g.942C>G
NG_009029.2:g.6538C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*107C>G	ENSP00000509954.1:n.*107C>G
ENST00000378842.8:c.519C>G MANE Select	ENSP00000368119.4:p.Asn173Lys
ENST00000378842.7:c.519C>G	ENSP00000368119.3:p.Asn173Lys
ENST00000450095.6:c.192C>G	ENSP00000401956.2:p.Asn64Lys
ENST00000465543.6:n.858C>G
ENST00000472111.5:n.775C>G
ENST00000473506.6:c.*107C>G	ENSP00000432839.2:n.*107C>G
ENST00000473529.5:n.678C>G
ENST00000485531.1:n.1113C>G
ENST00000487381.5:n.904C>G
ENST00000489643.6:n.294C>G
ENST00000554085.5:c.*263C>G	ENSP00000450419.1:n.*263C>G
ENST00000554139.5:n.765C>G
ENST00000554550.5:c.*139C>G	ENSP00000451435.1:n.*139C>G
ENST00000554638.5:n.991C>G
ENST00000554897.5:c.*206C>G	ENSP00000450942.1:n.*206C>G
ENST00000554944.5:n.868C>G
ENST00000555020.5:n.675C>G
ENST00000555086.5:n.523C>G
ENST00000555214.5:n.340C>G
ENST00000556244.1:c.506C>G
ENST00000556278.1:c.264C>G	ENSP00000451792.1:p.Asn88Lys
ENST00000556494.5:n.640C>G
ENST00000557706.5:n.1081C>G
NM_000155.3:c.519C>G	NP_000146.2:p.Asn173Lys
NM_001258332.1:c.192C>G	NP_001245261.1:p.Asn64Lys
NM_000155.4:c.519C>G MANE Select	NP_000146.2:p.Asn173Lys
NM_001258332.2:c.192C>G	NP_001245261.1:p.Asn64Lys