Canonical Allele Identifier: CA464403340

Gene: GALT

Linked Data

• dbSNP Id: rs1587239917
• MyVariant Identifiers: chr9:g.34648887T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648890T>G , CM000671.2:g.34648890T>G	GRCh38
NC_000009.11:g.34648887T>G , CM000671.1:g.34648887T>G	GRCh37
NC_000009.10:g.34638887T>G	NCBI36
NG_009029.1:g.7253T>G
NG_028966.1:g.1706T>G
NG_009029.2:g.7302T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*404T>G	ENSP00000509954.1:n.*404T>G
ENST00000378842.8:c.816T>G MANE Select	ENSP00000368119.4:p.Arg272=
ENST00000378842.7:c.816T>G	ENSP00000368119.3:p.Arg272=
ENST00000450095.6:c.489T>G	ENSP00000401956.2:p.Arg163=
ENST00000473506.6:c.*404T>G	ENSP00000432839.2:n.*404T>G
ENST00000489643.6:n.896T>G
ENST00000554085.5:c.*560T>G	ENSP00000450419.1:n.*560T>G
ENST00000554550.5:c.*436T>G	ENSP00000451435.1:n.*436T>G
ENST00000554638.5:n.1288T>G
ENST00000555020.5:n.1277T>G
ENST00000555086.5:n.820T>G
ENST00000555754.1:n.161T>G
ENST00000556244.1:c.803T>G
ENST00000556278.1:c.432+434T>G	ENSP00000451792.1:n.432+434T>G
ENST00000557706.5:n.1378T>G
NM_000155.3:c.816T>G	NP_000146.2:p.Arg272=
NM_001258332.1:c.489T>G	NP_001245261.1:p.Arg163=
NM_000155.4:c.816T>G MANE Select	NP_000146.2:p.Arg272=
NM_001258332.2:c.489T>G	NP_001245261.1:p.Arg163=