Canonical Allele Identifier: CA373278869

Gene: GALT

Linked Data

• dbSNP Id: rs1821126232
• gnomAD v4: 9-34647245-G-A
• MyVariant Identifiers: chr9:g.34647242G>A (hg19) ; chr9:g.34647245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647245G>A , CM000671.2:g.34647245G>A	GRCh38
NC_000009.11:g.34647242G>A , CM000671.1:g.34647242G>A	GRCh37
NC_000009.10:g.34637242G>A	NCBI36
NG_009029.1:g.5608G>A
NG_028966.1:g.61G>A
NG_009029.2:g.5657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.239G>A	ENSP00000509954.1:p.Arg80Gln
ENST00000378842.8:c.239G>A MANE Select	ENSP00000368119.4:p.Arg80Gln
ENST00000378842.7:c.239G>A	ENSP00000368119.3:p.Arg80Gln
ENST00000450095.6:c.37G>A	ENSP00000401956.2:p.Glu13Lys
ENST00000465543.6:n.578G>A
ENST00000468099.2:n.279G>A
ENST00000472111.5:n.280G>A
ENST00000473506.6:c.239G>A	ENSP00000432839.2:p.Arg80Gln
ENST00000473529.5:n.286G>A
ENST00000485531.1:n.232G>A
ENST00000487381.5:n.265G>A
ENST00000489643.6:n.269G>A
ENST00000554085.5:c.239G>A	ENSP00000450419.1:p.Arg80Gln
ENST00000554139.5:n.292G>A
ENST00000554330.5:n.236G>A
ENST00000554550.5:c.239G>A	ENSP00000451435.1:p.Arg80Gln
ENST00000554638.5:n.263G>A
ENST00000554897.5:c.239G>A	ENSP00000450942.1:p.Arg80Gln
ENST00000554944.5:n.269G>A
ENST00000555020.5:n.269G>A
ENST00000555086.5:n.243G>A
ENST00000555214.5:n.248G>A
ENST00000556157.1:n.346G>A
ENST00000556244.1:c.123G>A
ENST00000556278.1:c.239G>A	ENSP00000451792.1:p.Arg80Gln
ENST00000556403.5:n.252G>A
ENST00000556494.5:n.271G>A
ENST00000557541.5:n.432G>A
ENST00000557706.5:n.353G>A
NM_000155.3:c.239G>A	NP_000146.2:p.Arg80Gln
NM_001258332.1:c.37G>A	NP_001245261.1:p.Glu13Lys
NM_000155.4:c.239G>A MANE Select	NP_000146.2:p.Arg80Gln
NM_001258332.2:c.37G>A	NP_001245261.1:p.Glu13Lys