Canonical Allele Identifier: CA5036177

Gene: GALT

Linked Data

• dbSNP Id: rs750693939
• ExAC: 9:34648410 A / G
• gnomAD v2: 9-34648410-A-G
• MyVariant Identifiers: chr9:g.34648410A>G (hg19) ; chr9:g.34648413A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648413A>G , CM000671.2:g.34648413A>G	GRCh38
NC_000009.11:g.34648410A>G , CM000671.1:g.34648410A>G	GRCh37
NC_000009.10:g.34638410A>G	NCBI36
NG_009029.1:g.6776A>G
NG_028966.1:g.1229A>G
NG_009029.2:g.6825A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*232A>G	ENSP00000509954.1:n.*232A>G
ENST00000378842.8:c.644A>G MANE Select	ENSP00000368119.4:p.Glu215Gly
ENST00000378842.7:c.644A>G	ENSP00000368119.3:p.Glu215Gly
ENST00000450095.6:c.317A>G	ENSP00000401956.2:p.Glu106Gly
ENST00000472111.5:n.900A>G
ENST00000473506.6:c.*232A>G	ENSP00000432839.2:n.*232A>G
ENST00000473529.5:n.803A>G
ENST00000487381.5:n.1029A>G
ENST00000489643.6:n.419A>G
ENST00000554085.5:c.*388A>G	ENSP00000450419.1:n.*388A>G
ENST00000554550.5:c.*264A>G	ENSP00000451435.1:n.*264A>G
ENST00000554638.5:n.1116A>G
ENST00000555020.5:n.800A>G
ENST00000555086.5:n.648A>G
ENST00000555214.5:n.465A>G
ENST00000556244.1:c.631A>G
ENST00000556278.1:c.389A>G	ENSP00000451792.1:p.Glu130Gly
ENST00000556494.5:n.765A>G
ENST00000557706.5:n.1206A>G
NM_000155.3:c.644A>G	NP_000146.2:p.Glu215Gly
NM_001258332.1:c.317A>G	NP_001245261.1:p.Glu106Gly
NM_000155.4:c.644A>G MANE Select	NP_000146.2:p.Glu215Gly
NM_001258332.2:c.317A>G	NP_001245261.1:p.Glu106Gly