Canonical Allele Identifier: CA373282010

Gene: GALT

Linked Data

• ClinVar Variation Id: 1497126
• ClinVar RCV Id: RCV001992233
• dbSNP Id: rs2132344172
• MyVariant Identifiers: chr9:g.34648374A>G (hg19) ; chr9:g.34648377A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648377A>G , CM000671.2:g.34648377A>G	GRCh38
NC_000009.11:g.34648374A>G , CM000671.1:g.34648374A>G	GRCh37
NC_000009.10:g.34638374A>G	NCBI36
NG_009029.1:g.6740A>G
NG_028966.1:g.1193A>G
NG_009029.2:g.6789A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*196A>G	ENSP00000509954.1:n.*196A>G
ENST00000378842.8:c.608A>G MANE Select	ENSP00000368119.4:p.Glu203Gly
ENST00000378842.7:c.608A>G	ENSP00000368119.3:p.Glu203Gly
ENST00000450095.6:c.281A>G	ENSP00000401956.2:p.Glu94Gly
ENST00000472111.5:n.864A>G
ENST00000473506.6:c.*196A>G	ENSP00000432839.2:n.*196A>G
ENST00000473529.5:n.767A>G
ENST00000487381.5:n.993A>G
ENST00000489643.6:n.383A>G
ENST00000554085.5:c.*352A>G	ENSP00000450419.1:n.*352A>G
ENST00000554139.5:n.854A>G
ENST00000554550.5:c.*228A>G	ENSP00000451435.1:n.*228A>G
ENST00000554638.5:n.1080A>G
ENST00000554944.5:n.957A>G
ENST00000555020.5:n.764A>G
ENST00000555086.5:n.612A>G
ENST00000555214.5:n.429A>G
ENST00000556244.1:c.595A>G
ENST00000556278.1:c.353A>G	ENSP00000451792.1:p.Glu118Gly
ENST00000556494.5:n.729A>G
ENST00000557706.5:n.1170A>G
NM_000155.3:c.608A>G	NP_000146.2:p.Glu203Gly
NM_001258332.1:c.281A>G	NP_001245261.1:p.Glu94Gly
NM_000155.4:c.608A>G MANE Select	NP_000146.2:p.Glu203Gly
NM_001258332.2:c.281A>G	NP_001245261.1:p.Glu94Gly