Canonical Allele Identifier: CA373283730

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648811C>G (hg19) ; chr9:g.34648814C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648814C>G , CM000671.2:g.34648814C>G	GRCh38
NC_000009.11:g.34648811C>G , CM000671.1:g.34648811C>G	GRCh37
NC_000009.10:g.34638811C>G	NCBI36
NG_009029.1:g.7177C>G
NG_028966.1:g.1630C>G
NG_009029.2:g.7226C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*328C>G	ENSP00000509954.1:n.*328C>G
ENST00000378842.8:c.740C>G MANE Select	ENSP00000368119.4:p.Ala247Gly
ENST00000378842.7:c.740C>G	ENSP00000368119.3:p.Ala247Gly
ENST00000450095.6:c.413C>G	ENSP00000401956.2:p.Ala138Gly
ENST00000473506.6:c.*328C>G	ENSP00000432839.2:n.*328C>G
ENST00000473529.5:n.899C>G
ENST00000487381.5:n.1430C>G
ENST00000489643.6:n.820C>G
ENST00000554085.5:c.*484C>G	ENSP00000450419.1:n.*484C>G
ENST00000554550.5:c.*360C>G	ENSP00000451435.1:n.*360C>G
ENST00000554638.5:n.1212C>G
ENST00000555020.5:n.1201C>G
ENST00000555086.5:n.744C>G
ENST00000555754.1:n.85C>G
ENST00000556244.1:c.727C>G
ENST00000556278.1:c.432+358C>G	ENSP00000451792.1:n.432+358C>G
ENST00000557706.5:n.1302C>G
NM_000155.3:c.740C>G	NP_000146.2:p.Ala247Gly
NM_001258332.1:c.413C>G	NP_001245261.1:p.Ala138Gly
NM_000155.4:c.740C>G MANE Select	NP_000146.2:p.Ala247Gly
NM_001258332.2:c.413C>G	NP_001245261.1:p.Ala138Gly