Canonical Allele Identifier: CA373282175

Gene: GALT

Linked Data

• ClinVar Variation Id: 439750
• ClinVar RCV Id: RCV000506939 ; RCV001829449
• dbSNP Id: rs1413579895
• gnomAD v2: 9-34648406-G-A
• MyVariant Identifiers: chr9:g.34648406G>A (hg19) ; chr9:g.34648409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648409G>A , CM000671.2:g.34648409G>A	GRCh38
NC_000009.11:g.34648406G>A , CM000671.1:g.34648406G>A	GRCh37
NC_000009.10:g.34638406G>A	NCBI36
NG_009029.1:g.6772G>A
NG_028966.1:g.1225G>A
NG_009029.2:g.6821G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*228G>A	ENSP00000509954.1:n.*228G>A
ENST00000378842.8:c.640G>A MANE Select	ENSP00000368119.4:p.Gly214Arg
ENST00000378842.7:c.640G>A	ENSP00000368119.3:p.Gly214Arg
ENST00000450095.6:c.313G>A	ENSP00000401956.2:p.Gly105Arg
ENST00000472111.5:n.896G>A
ENST00000473506.6:c.*228G>A	ENSP00000432839.2:n.*228G>A
ENST00000473529.5:n.799G>A
ENST00000487381.5:n.1025G>A
ENST00000489643.6:n.415G>A
ENST00000554085.5:c.*384G>A	ENSP00000450419.1:n.*384G>A
ENST00000554550.5:c.*260G>A	ENSP00000451435.1:n.*260G>A
ENST00000554638.5:n.1112G>A
ENST00000555020.5:n.796G>A
ENST00000555086.5:n.644G>A
ENST00000555214.5:n.461G>A
ENST00000556244.1:c.627G>A
ENST00000556278.1:c.385G>A	ENSP00000451792.1:p.Gly129Arg
ENST00000556494.5:n.761G>A
ENST00000557706.5:n.1202G>A
NM_000155.3:c.640G>A	NP_000146.2:p.Gly214Arg
NM_001258332.1:c.313G>A	NP_001245261.1:p.Gly105Arg
NM_000155.4:c.640G>A MANE Select	NP_000146.2:p.Gly214Arg
NM_001258332.2:c.313G>A	NP_001245261.1:p.Gly105Arg