Canonical Allele Identifier: CA259466

Gene: GALT

Linked Data

• ClinVar Variation Id: 25239
• ClinVar RCV Id: RCV000022175 ; RCV000337575
• dbSNP Id: rs2070075
• gnomAD v4: 9-34648421-C-G
• MyVariant Identifiers: chr9:g.34648418C>G (hg19) ; chr9:g.34648421C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648421C>G , CM000671.2:g.34648421C>G	GRCh38
NC_000009.11:g.34648418C>G , CM000671.1:g.34648418C>G	GRCh37
NC_000009.10:g.34638418C>G	NCBI36
NG_009029.1:g.6784C>G
NG_028966.1:g.1237C>G
NG_009029.2:g.6833C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*240C>G	ENSP00000509954.1:n.*240C>G
ENST00000378842.8:c.652C>G MANE Select	ENSP00000368119.4:p.Leu218Val
ENST00000378842.7:c.652C>G	ENSP00000368119.3:p.Leu218Val
ENST00000450095.6:c.325C>G	ENSP00000401956.2:p.Leu109Val
ENST00000472111.5:n.908C>G
ENST00000473506.6:c.*240C>G	ENSP00000432839.2:n.*240C>G
ENST00000473529.5:n.811C>G
ENST00000487381.5:n.1037C>G
ENST00000489643.6:n.427C>G
ENST00000554085.5:c.*396C>G	ENSP00000450419.1:n.*396C>G
ENST00000554550.5:c.*272C>G	ENSP00000451435.1:n.*272C>G
ENST00000554638.5:n.1124C>G
ENST00000555020.5:n.808C>G
ENST00000555086.5:n.656C>G
ENST00000555214.5:n.473C>G
ENST00000556244.1:c.639C>G
ENST00000556278.1:c.397C>G	ENSP00000451792.1:p.Leu133Val
ENST00000556494.5:n.773C>G
ENST00000557706.5:n.1214C>G
NM_000155.3:c.652C>G	NP_000146.2:p.Leu218Val
NM_001258332.1:c.325C>G	NP_001245261.1:p.Leu109Val
NM_000155.4:c.652C>G MANE Select	NP_000146.2:p.Leu218Val
NM_001258332.2:c.325C>G	NP_001245261.1:p.Leu109Val