Canonical Allele Identifier: CA259404
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033705
gnomAD v3: 9-34647944-C-T
gnomAD v4: 9-34647944-C-T
MyVariant Identifiers: chr9:g.34647941C>T (hg19) chr9:g.34647944C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647944C>T , CM000671.2:g.34647944C>T GRCh38
NC_000009.11:g.34647941C>T , CM000671.1:g.34647941C>T GRCh37
NC_000009.10:g.34637941C>T NCBI36
NG_009029.1:g.6307C>T
NG_028966.1:g.760C>T
NG_009029.2:g.6356C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*78C>T ENSP00000509954.1:n.*78C>T
ENST00000378842.8:c.490C>T MANE Select ENSP00000368119.4:p.Gln164Ter
ENST00000378842.7:c.490C>T ENSP00000368119.3:p.Gln164Ter
ENST00000450095.6:c.163C>T ENSP00000401956.2:p.Gln55Ter
ENST00000465543.6:n.829C>T
ENST00000472111.5:n.746C>T
ENST00000473506.6:c.*78C>T ENSP00000432839.2:n.*78C>T
ENST00000473529.5:n.626C>T
ENST00000485531.1:n.931C>T
ENST00000487381.5:n.875C>T
ENST00000489643.6:n.283-171C>T
ENST00000554085.5:c.*234C>T ENSP00000450419.1:n.*234C>T
ENST00000554139.5:n.669C>T
ENST00000554550.5:c.*110C>T ENSP00000451435.1:n.*110C>T
ENST00000554638.5:n.962C>T
ENST00000554897.5:c.*110C>T ENSP00000450942.1:n.*110C>T
ENST00000554944.5:n.686C>T
ENST00000555020.5:n.646C>T
ENST00000555086.5:n.494C>T
ENST00000555214.5:n.262-104C>T
ENST00000556244.1:c.477C>T
ENST00000556278.1:c.253-171C>T ENSP00000451792.1:n.253-171C>T
ENST00000556494.5:n.611C>T
ENST00000557706.5:n.1052C>T
NM_000155.3:c.490C>T NP_000146.2:p.Gln164Ter
NM_001258332.1:c.163C>T NP_001245261.1:p.Gln55Ter
NM_000155.4:c.490C>T MANE Select NP_000146.2:p.Gln164Ter
NM_001258332.2:c.163C>T NP_001245261.1:p.Gln55Ter
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