Canonical Allele Identifier: CA259537
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033786
gnomAD v4: 9-34649455-A-G
MyVariant Identifiers: chr9:g.34649452A>G (hg19) chr9:g.34649455A>G (hg38)
PubMed: PMID:10408771
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649455A>G , CM000671.2:g.34649455A>G GRCh38
NC_000009.11:g.34649452A>G , CM000671.1:g.34649452A>G GRCh37
NC_000009.10:g.34639452A>G NCBI36
NG_009029.1:g.7818A>G
NG_028966.1:g.2271A>G
NG_009029.2:g.7867A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*538A>G ENSP00000509954.1:n.*538A>G
ENST00000378842.8:c.950A>G MANE Select ENSP00000368119.4:p.Gln317Arg
ENST00000378842.7:c.950A>G ENSP00000368119.3:p.Gln317Arg
ENST00000450095.6:c.623A>G ENSP00000401956.2:p.Gln208Arg
ENST00000488412.2:n.534A>G
ENST00000489643.6:n.1358A>G
ENST00000554550.5:c.*570A>G ENSP00000451435.1:n.*570A>G
ENST00000554638.5:n.1422A>G
ENST00000555020.5:n.1739A>G
ENST00000555754.1:n.398A>G
ENST00000556278.1:c.432+999A>G ENSP00000451792.1:n.432+999A>G
ENST00000557706.5:n.1525A>G
NM_000155.3:c.950A>G NP_000146.2:p.Gln317Arg
NM_001258332.1:c.623A>G NP_001245261.1:p.Gln208Arg
NM_000155.4:c.950A>G MANE Select NP_000146.2:p.Gln317Arg
NM_001258332.2:c.623A>G NP_001245261.1:p.Gln208Arg
Search 100 bp 5'
Search 100 bp 3'