Canonical Allele Identifier: CA259451

Gene: GALT

Linked Data

• ClinVar Variation Id: 25227
• ClinVar RCV Id: RCV000022163 ; RCV000723397 ; RCV001831598
• dbSNP Id: rs111033735
• ExAC: 9:34648368 G / A
• gnomAD v2: 9-34648368-G-A
• gnomAD v3: 9-34648371-G-A
• gnomAD v4: 9-34648371-G-A
• COSMIC: COSM1108504
• MyVariant Identifiers: chr9:g.34648368G>A (hg19) ; chr9:g.34648371G>A (hg38)
• PubMed: PMID:7887416 ; PMID:25124065

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648371G>A , CM000671.2:g.34648371G>A	GRCh38
NC_000009.11:g.34648368G>A , CM000671.1:g.34648368G>A	GRCh37
NC_000009.10:g.34638368G>A	NCBI36
NG_009029.1:g.6734G>A
NG_028966.1:g.1187G>A
NG_009029.2:g.6783G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*190G>A	ENSP00000509954.1:n.*190G>A
ENST00000378842.8:c.602G>A MANE Select	ENSP00000368119.4:p.Arg201His
ENST00000378842.7:c.602G>A	ENSP00000368119.3:p.Arg201His
ENST00000450095.6:c.275G>A	ENSP00000401956.2:p.Arg92His
ENST00000472111.5:n.858G>A
ENST00000473506.6:c.*190G>A	ENSP00000432839.2:n.*190G>A
ENST00000473529.5:n.761G>A
ENST00000485531.1:n.1196G>A
ENST00000487381.5:n.987G>A
ENST00000489643.6:n.377G>A
ENST00000554085.5:c.*346G>A	ENSP00000450419.1:n.*346G>A
ENST00000554139.5:n.848G>A
ENST00000554550.5:c.*222G>A	ENSP00000451435.1:n.*222G>A
ENST00000554638.5:n.1074G>A
ENST00000554897.5:c.*289G>A	ENSP00000450942.1:n.*289G>A
ENST00000554944.5:n.951G>A
ENST00000555020.5:n.758G>A
ENST00000555086.5:n.606G>A
ENST00000555214.5:n.423G>A
ENST00000556244.1:c.589G>A
ENST00000556278.1:c.347G>A	ENSP00000451792.1:p.Arg116His
ENST00000556494.5:n.723G>A
ENST00000557706.5:n.1164G>A
NM_000155.3:c.602G>A	NP_000146.2:p.Arg201His
NM_001258332.1:c.275G>A	NP_001245261.1:p.Arg92His
NM_000155.4:c.602G>A MANE Select	NP_000146.2:p.Arg201His
NM_001258332.2:c.275G>A	NP_001245261.1:p.Arg92His