Canonical Allele Identifier: CA259413
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033710
MyVariant Identifiers: chr9:g.34647960T>C (hg19) chr9:g.34647963T>C (hg38)
PubMed: PMID:10399107
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647963T>C , CM000671.2:g.34647963T>C GRCh38
NC_000009.11:g.34647960T>C , CM000671.1:g.34647960T>C GRCh37
NC_000009.10:g.34637960T>C NCBI36
NG_009029.1:g.6326T>C
NG_028966.1:g.779T>C
NG_009029.2:g.6375T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*95+2T>C ENSP00000509954.1:n.*95+2T>C
ENST00000378842.8:c.507+2T>C MANE Select ENSP00000368119.4:n.507+2T>C
ENST00000378842.7:c.507+2T>C ENSP00000368119.3:n.507+2T>C
ENST00000450095.6:c.180+2T>C ENSP00000401956.2:n.180+2T>C
ENST00000465543.6:n.846+2T>C
ENST00000472111.5:n.763+2T>C
ENST00000473506.6:c.*95+2T>C ENSP00000432839.2:n.*95+2T>C
ENST00000473529.5:n.643+2T>C
ENST00000485531.1:n.950T>C
ENST00000487381.5:n.892+2T>C
ENST00000489643.6:n.283-152T>C
ENST00000554085.5:c.*251+2T>C ENSP00000450419.1:n.*251+2T>C
ENST00000554139.5:n.686+2T>C
ENST00000554550.5:c.*127+2T>C ENSP00000451435.1:n.*127+2T>C
ENST00000554638.5:n.979+2T>C
ENST00000554897.5:c.*127+2T>C ENSP00000450942.1:n.*127+2T>C
ENST00000554944.5:n.705T>C
ENST00000555020.5:n.663+2T>C
ENST00000555086.5:n.511+2T>C
ENST00000555214.5:n.262-85T>C
ENST00000556244.1:c.494+2T>C
ENST00000556278.1:c.253-152T>C ENSP00000451792.1:n.253-152T>C
ENST00000556494.5:n.628+2T>C
ENST00000557706.5:n.1069+2T>C
NM_000155.3:c.507+2T>C NP_000146.2:n.507+2T>C
NM_001258332.1:c.180+2T>C NP_001245261.1:n.180+2T>C
NM_000155.4:c.507+2T>C MANE Select NP_000146.2:n.507+2T>C
NM_001258332.2:c.180+2T>C NP_001245261.1:n.180+2T>C
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