Canonical Allele Identifier: CA192670186

Gene: GALT

Linked Data

• ClinVar Variation Id: 1418124
• ClinVar RCV Id: RCV001951951
• dbSNP Id: rs896091797
• gnomAD v2: 9-34648394-A-G
• gnomAD v3: 9-34648397-A-G
• gnomAD v4: 9-34648397-A-G
• MyVariant Identifiers: chr9:g.34648394A>G (hg19) ; chr9:g.34648397A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648397A>G , CM000671.2:g.34648397A>G	GRCh38
NC_000009.11:g.34648394A>G , CM000671.1:g.34648394A>G	GRCh37
NC_000009.10:g.34638394A>G	NCBI36
NG_009029.1:g.6760A>G
NG_028966.1:g.1213A>G
NG_009029.2:g.6809A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*216A>G	ENSP00000509954.1:n.*216A>G
ENST00000378842.8:c.628A>G MANE Select	ENSP00000368119.4:p.Lys210Glu
ENST00000378842.7:c.628A>G	ENSP00000368119.3:p.Lys210Glu
ENST00000450095.6:c.301A>G	ENSP00000401956.2:p.Lys101Glu
ENST00000472111.5:n.884A>G
ENST00000473506.6:c.*216A>G	ENSP00000432839.2:n.*216A>G
ENST00000473529.5:n.787A>G
ENST00000487381.5:n.1013A>G
ENST00000489643.6:n.403A>G
ENST00000554085.5:c.*372A>G	ENSP00000450419.1:n.*372A>G
ENST00000554550.5:c.*248A>G	ENSP00000451435.1:n.*248A>G
ENST00000554638.5:n.1100A>G
ENST00000555020.5:n.784A>G
ENST00000555086.5:n.632A>G
ENST00000555214.5:n.449A>G
ENST00000556244.1:c.615A>G
ENST00000556278.1:c.373A>G	ENSP00000451792.1:p.Lys125Glu
ENST00000556494.5:n.749A>G
ENST00000557706.5:n.1190A>G
NM_000155.3:c.628A>G	NP_000146.2:p.Lys210Glu
NM_001258332.1:c.301A>G	NP_001245261.1:p.Lys101Glu
NM_000155.4:c.628A>G MANE Select	NP_000146.2:p.Lys210Glu
NM_001258332.2:c.301A>G	NP_001245261.1:p.Lys101Glu