Canonical Allele Identifier: CA373283935

Gene: GALT

Linked Data

• dbSNP Id: rs111033763
• gnomAD v2: 9-34648856-G-A
• gnomAD v3: 9-34648859-G-A
• gnomAD v4: 9-34648859-G-A
• MyVariant Identifiers: chr9:g.34648856G>A (hg19) ; chr9:g.34648859G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648859G>A , CM000671.2:g.34648859G>A	GRCh38
NC_000009.11:g.34648856G>A , CM000671.1:g.34648856G>A	GRCh37
NC_000009.10:g.34638856G>A	NCBI36
NG_009029.1:g.7222G>A
NG_028966.1:g.1675G>A
NG_009029.2:g.7271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*373G>A	ENSP00000509954.1:n.*373G>A
ENST00000378842.8:c.785G>A MANE Select	ENSP00000368119.4:p.Arg262Gln
ENST00000378842.7:c.785G>A	ENSP00000368119.3:p.Arg262Gln
ENST00000450095.6:c.458G>A	ENSP00000401956.2:p.Arg153Gln
ENST00000473506.6:c.*373G>A	ENSP00000432839.2:n.*373G>A
ENST00000489643.6:n.865G>A
ENST00000554085.5:c.*529G>A	ENSP00000450419.1:n.*529G>A
ENST00000554550.5:c.*405G>A	ENSP00000451435.1:n.*405G>A
ENST00000554638.5:n.1257G>A
ENST00000555020.5:n.1246G>A
ENST00000555086.5:n.789G>A
ENST00000555754.1:n.130G>A
ENST00000556244.1:c.772G>A
ENST00000556278.1:c.432+403G>A	ENSP00000451792.1:n.432+403G>A
ENST00000557706.5:n.1347G>A
NM_000155.3:c.785G>A	NP_000146.2:p.Arg262Gln
NM_001258332.1:c.458G>A	NP_001245261.1:p.Arg153Gln
NM_000155.4:c.785G>A MANE Select	NP_000146.2:p.Arg262Gln
NM_001258332.2:c.458G>A	NP_001245261.1:p.Arg153Gln