Canonical Allele Identifier: CA863495970

Gene: GALT

Linked Data

• dbSNP Id: rs1262535145
• gnomAD v3: 9-34648217-C-G
• gnomAD v4: 9-34648217-C-G
• MyVariant Identifiers: chr9:g.34648214C>G (hg19) ; chr9:g.34648217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648217C>G , CM000671.2:g.34648217C>G	GRCh38
NC_000009.11:g.34648214C>G , CM000671.1:g.34648214C>G	GRCh37
NC_000009.10:g.34638214C>G	NCBI36
NG_009029.1:g.6580C>G
NG_028966.1:g.1033C>G
NG_009029.2:g.6629C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*152+46C>G	ENSP00000509954.1:n.*152+46C>G
ENST00000378842.8:c.564+46C>G MANE Select	ENSP00000368119.4:n.564+46C>G
ENST00000378842.7:c.564+46C>G	ENSP00000368119.3:n.564+46C>G
ENST00000450095.6:c.237+46C>G	ENSP00000401956.2:n.237+46C>G
ENST00000472111.5:n.820+46C>G
ENST00000473506.6:c.*152+46C>G	ENSP00000432839.2:n.*152+46C>G
ENST00000473529.5:n.723+46C>G
ENST00000485531.1:n.1158+46C>G
ENST00000487381.5:n.949+46C>G
ENST00000489643.6:n.339+46C>G
ENST00000554085.5:c.*308+46C>G	ENSP00000450419.1:n.*308+46C>G
ENST00000554139.5:n.810+46C>G
ENST00000554550.5:c.*184+46C>G	ENSP00000451435.1:n.*184+46C>G
ENST00000554638.5:n.1036+46C>G
ENST00000554897.5:c.*251+46C>G	ENSP00000450942.1:n.*251+46C>G
ENST00000554944.5:n.913+46C>G
ENST00000555020.5:n.720+46C>G
ENST00000555086.5:n.568+46C>G
ENST00000555214.5:n.385+46C>G
ENST00000556244.1:c.551+46C>G
ENST00000556278.1:c.309+46C>G	ENSP00000451792.1:n.309+46C>G
ENST00000556494.5:n.685+46C>G
ENST00000557706.5:n.1126+46C>G
NM_000155.3:c.564+46C>G	NP_000146.2:n.564+46C>G
NM_001258332.1:c.237+46C>G	NP_001245261.1:n.237+46C>G
NM_000155.4:c.564+46C>G MANE Select	NP_000146.2:n.564+46C>G
NM_001258332.2:c.237+46C>G	NP_001245261.1:n.237+46C>G