Canonical Allele Identifier: CA259379

Gene: GALT

Linked Data

• ClinVar Variation Id: 25168
• ClinVar RCV Id: RCV000022100 ; RCV000270852
• dbSNP Id: rs367543255
• gnomAD v4: 9-34647843-G-A
• MyVariant Identifiers: chr9:g.34647840G>A (hg19) ; chr9:g.34647843G>A (hg38)
• PubMed: PMID:11261429

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647843G>A , CM000671.2:g.34647843G>A	GRCh38
NC_000009.11:g.34647840G>A , CM000671.1:g.34647840G>A	GRCh37
NC_000009.10:g.34637840G>A	NCBI36
NG_009029.1:g.6206G>A
NG_028966.1:g.659G>A
NG_009029.2:g.6255G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.340G>A	ENSP00000509954.1:p.Ala114Thr
ENST00000378842.8:c.389G>A MANE Select	ENSP00000368119.4:p.Cys130Tyr
ENST00000378842.7:c.389G>A	ENSP00000368119.3:p.Cys130Tyr
ENST00000450095.6:c.62G>A	ENSP00000401956.2:p.Cys21Tyr
ENST00000465543.6:n.728G>A
ENST00000472111.5:n.645G>A
ENST00000473506.6:c.340G>A	ENSP00000432839.2:p.Ala114Thr
ENST00000473529.5:n.525G>A
ENST00000485531.1:n.830G>A
ENST00000487381.5:n.774G>A
ENST00000489643.6:n.283-272G>A
ENST00000554085.5:c.*133G>A	ENSP00000450419.1:n.*133G>A
ENST00000554139.5:n.568G>A
ENST00000554330.5:n.552G>A
ENST00000554550.5:c.*9G>A	ENSP00000451435.1:n.*9G>A
ENST00000554638.5:n.861G>A
ENST00000554897.5:c.*9G>A	ENSP00000450942.1:n.*9G>A
ENST00000554944.5:n.585G>A
ENST00000555020.5:n.545G>A
ENST00000555086.5:n.393G>A
ENST00000555214.5:n.262-205G>A
ENST00000556244.1:c.376G>A
ENST00000556278.1:c.253-272G>A	ENSP00000451792.1:n.253-272G>A
ENST00000556494.5:n.510G>A
ENST00000557541.5:n.533G>A
ENST00000557706.5:n.951G>A
NM_000155.3:c.389G>A	NP_000146.2:p.Cys130Tyr
NM_001258332.1:c.62G>A	NP_001245261.1:p.Cys21Tyr
NM_000155.4:c.389G>A MANE Select	NP_000146.2:p.Cys130Tyr
NM_001258332.2:c.62G>A	NP_001245261.1:p.Cys21Tyr