Canonical Allele Identifier: CA259347

Gene: GALT

Linked Data

• ClinVar Variation Id: 38280
• ClinVar RCV Id: RCV000022072
• dbSNP Id: rs111033660
• MyVariant Identifiers: chr9:g.34647250G>A (hg19) ; chr9:g.34647253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647253G>A , CM000671.2:g.34647253G>A	GRCh38
NC_000009.11:g.34647250G>A , CM000671.1:g.34647250G>A	GRCh37
NC_000009.10:g.34637250G>A	NCBI36
NG_009029.1:g.5616G>A
NG_028966.1:g.69G>A
NG_009029.2:g.5665G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.247G>A	ENSP00000509954.1:p.Gly83Arg
ENST00000378842.8:c.247G>A MANE Select	ENSP00000368119.4:p.Gly83Arg
ENST00000378842.7:c.247G>A	ENSP00000368119.3:p.Gly83Arg
ENST00000450095.6:c.45G>A	ENSP00000401956.2:p.Thr15=
ENST00000465543.6:n.586G>A
ENST00000468099.2:n.287G>A
ENST00000472111.5:n.288G>A
ENST00000473506.6:c.247G>A	ENSP00000432839.2:p.Gly83Arg
ENST00000473529.5:n.294G>A
ENST00000485531.1:n.240G>A
ENST00000487381.5:n.273G>A
ENST00000489643.6:n.277G>A
ENST00000554085.5:c.247G>A	ENSP00000450419.1:p.Gly83Arg
ENST00000554139.5:n.300G>A
ENST00000554330.5:n.244G>A
ENST00000554550.5:c.247G>A	ENSP00000451435.1:p.Gly83Arg
ENST00000554638.5:n.271G>A
ENST00000554897.5:c.247G>A	ENSP00000450942.1:p.Gly83Arg
ENST00000554944.5:n.277G>A
ENST00000555020.5:n.277G>A
ENST00000555086.5:n.251G>A
ENST00000555214.5:n.256G>A
ENST00000556157.1:n.354G>A
ENST00000556244.1:c.131G>A
ENST00000556278.1:c.247G>A	ENSP00000451792.1:p.Gly83Arg
ENST00000556403.5:n.260G>A
ENST00000556494.5:n.279G>A
ENST00000557541.5:n.440G>A
ENST00000557706.5:n.361G>A
NM_000155.3:c.247G>A	NP_000146.2:p.Gly83Arg
NM_001258332.1:c.45G>A	NP_001245261.1:p.Thr15=
NM_000155.4:c.247G>A MANE Select	NP_000146.2:p.Gly83Arg
NM_001258332.2:c.45G>A	NP_001245261.1:p.Thr15=