Canonical Allele Identifier: CA259363
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25154
ClinVar RCV Id: RCV000022085 RCV000505778 RCV001826491
dbSNP Id: rs111033667
ExAC: 9:34647652 A / C
gnomAD v2: 9-34647652-A-C
gnomAD v3: 9-34647655-A-C
gnomAD v4: 9-34647655-A-C
MyVariant Identifiers: chr9:g.34647652A>C (hg19) chr9:g.34647655A>C (hg38)
PubMed: PMID:7887416 PMID:22944367
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647655A>C , CM000671.2:g.34647655A>C GRCh38
NC_000009.11:g.34647652A>C , CM000671.1:g.34647652A>C GRCh37
NC_000009.10:g.34637652A>C NCBI36
NG_009029.1:g.6018A>C
NG_028966.1:g.471A>C
NG_009029.2:g.6067A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.328+88A>C ENSP00000509954.1:n.328+88A>C
ENST00000378842.8:c.329-2A>C MANE Select ENSP00000368119.4:n.329-2A>C
ENST00000378842.7:c.329-2A>C ENSP00000368119.3:n.329-2A>C
ENST00000450095.6:c.51-177A>C ENSP00000401956.2:n.51-177A>C
ENST00000465543.6:n.668-2A>C
ENST00000472111.5:n.457A>C
ENST00000473506.6:c.280-2A>C ENSP00000432839.2:n.280-2A>C
ENST00000473529.5:n.463A>C
ENST00000485531.1:n.642A>C
ENST00000487381.5:n.588-2A>C
ENST00000489643.6:n.282+397A>C
ENST00000554085.5:c.*73-2A>C ENSP00000450419.1:n.*73-2A>C
ENST00000554139.5:n.382-2A>C
ENST00000554330.5:n.364A>C
ENST00000554550.5:c.253-177A>C ENSP00000451435.1:n.253-177A>C
ENST00000554638.5:n.673A>C
ENST00000554897.5:c.253-177A>C ENSP00000450942.1:n.253-177A>C
ENST00000554944.5:n.397A>C
ENST00000555020.5:n.359-2A>C
ENST00000555086.5:n.333-2A>C
ENST00000555214.5:n.262-393A>C
ENST00000556157.1:n.453-2A>C
ENST00000556244.1:c.316-2A>C
ENST00000556278.1:c.252+397A>C ENSP00000451792.1:n.252+397A>C
ENST00000556403.5:n.429A>C
ENST00000556494.5:n.448A>C
ENST00000557541.5:n.473-2A>C
ENST00000557706.5:n.763A>C
NM_000155.3:c.329-2A>C NP_000146.2:n.329-2A>C
NM_001258332.1:c.51-177A>C NP_001245261.1:n.51-177A>C
NM_000155.4:c.329-2A>C MANE Select NP_000146.2:n.329-2A>C
NM_001258332.2:c.51-177A>C NP_001245261.1:n.51-177A>C
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