Canonical Allele Identifier: CA259394

Gene: GALT

Linked Data

• ClinVar Variation Id: 25178
• ClinVar RCV Id: RCV000022114 ; RCV000723398 ; RCV001826492
• dbSNP Id: rs111033694
• ExAC: 9:34647894 G / A
• gnomAD v2: 9-34647894-G-A
• gnomAD v3: 9-34647897-G-A
• gnomAD v4: 9-34647897-G-A
• MyVariant Identifiers: chr9:g.34647894G>A (hg19) ; chr9:g.34647897G>A (hg38)
• PubMed: PMID:7887416 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647897G>A , CM000671.2:g.34647897G>A	GRCh38
NC_000009.11:g.34647894G>A , CM000671.1:g.34647894G>A	GRCh37
NC_000009.10:g.34637894G>A	NCBI36
NG_009029.1:g.6260G>A
NG_028966.1:g.713G>A
NG_009029.2:g.6309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*31G>A	ENSP00000509954.1:n.*31G>A
ENST00000378842.8:c.443G>A MANE Select	ENSP00000368119.4:p.Arg148Gln
ENST00000378842.7:c.443G>A	ENSP00000368119.3:p.Arg148Gln
ENST00000450095.6:c.116G>A	ENSP00000401956.2:p.Arg39Gln
ENST00000465543.6:n.782G>A
ENST00000472111.5:n.699G>A
ENST00000473506.6:c.*31G>A	ENSP00000432839.2:n.*31G>A
ENST00000473529.5:n.579G>A
ENST00000485531.1:n.884G>A
ENST00000487381.5:n.828G>A
ENST00000489643.6:n.283-218G>A
ENST00000554085.5:c.*187G>A	ENSP00000450419.1:n.*187G>A
ENST00000554139.5:n.622G>A
ENST00000554550.5:c.*63G>A	ENSP00000451435.1:n.*63G>A
ENST00000554638.5:n.915G>A
ENST00000554897.5:c.*63G>A	ENSP00000450942.1:n.*63G>A
ENST00000554944.5:n.639G>A
ENST00000555020.5:n.599G>A
ENST00000555086.5:n.447G>A
ENST00000555214.5:n.262-151G>A
ENST00000556244.1:c.430G>A
ENST00000556278.1:c.253-218G>A	ENSP00000451792.1:n.253-218G>A
ENST00000556494.5:n.564G>A
ENST00000557541.5:n.587G>A
ENST00000557706.5:n.1005G>A
NM_000155.3:c.443G>A	NP_000146.2:p.Arg148Gln
NM_001258332.1:c.116G>A	NP_001245261.1:p.Arg39Gln
NM_000155.4:c.443G>A MANE Select	NP_000146.2:p.Arg148Gln
NM_001258332.2:c.116G>A	NP_001245261.1:p.Arg39Gln