Canonical Allele Identifier: CA373282059

Gene: GALT

Linked Data

• dbSNP Id: rs111033743
• gnomAD v2: 9-34648385-C-G
• gnomAD v4: 9-34648388-C-G
• MyVariant Identifiers: chr9:g.34648385C>G (hg19) ; chr9:g.34648388C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648388C>G , CM000671.2:g.34648388C>G	GRCh38
NC_000009.11:g.34648385C>G , CM000671.1:g.34648385C>G	GRCh37
NC_000009.10:g.34638385C>G	NCBI36
NG_009029.1:g.6751C>G
NG_028966.1:g.1204C>G
NG_009029.2:g.6800C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*207C>G	ENSP00000509954.1:n.*207C>G
ENST00000378842.8:c.619C>G MANE Select	ENSP00000368119.4:p.Gln207Glu
ENST00000378842.7:c.619C>G	ENSP00000368119.3:p.Gln207Glu
ENST00000450095.6:c.292C>G	ENSP00000401956.2:p.Gln98Glu
ENST00000472111.5:n.875C>G
ENST00000473506.6:c.*207C>G	ENSP00000432839.2:n.*207C>G
ENST00000473529.5:n.778C>G
ENST00000487381.5:n.1004C>G
ENST00000489643.6:n.394C>G
ENST00000554085.5:c.*363C>G	ENSP00000450419.1:n.*363C>G
ENST00000554550.5:c.*239C>G	ENSP00000451435.1:n.*239C>G
ENST00000554638.5:n.1091C>G
ENST00000554944.5:n.968C>G
ENST00000555020.5:n.775C>G
ENST00000555086.5:n.623C>G
ENST00000555214.5:n.440C>G
ENST00000556244.1:c.606C>G
ENST00000556278.1:c.364C>G	ENSP00000451792.1:p.Gln122Glu
ENST00000556494.5:n.740C>G
ENST00000557706.5:n.1181C>G
NM_000155.3:c.619C>G	NP_000146.2:p.Gln207Glu
NM_001258332.1:c.292C>G	NP_001245261.1:p.Gln98Glu
NM_000155.4:c.619C>G MANE Select	NP_000146.2:p.Gln207Glu
NM_001258332.2:c.292C>G	NP_001245261.1:p.Gln98Glu