Canonical Allele Identifier: CA259559
Gene: GALT HGNC NCBI

Linked Data

dbSNP Id: rs111033803
ExAC: 9:34649488 C / T
MyVariant Identifiers: chr9:g.34649488C>T (hg19) chr9:g.34649491C>T (hg38)
PubMed: PMID:10408771
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649491C>T , CM000671.2:g.34649491C>T GRCh38
NC_000009.11:g.34649488C>T , CM000671.1:g.34649488C>T GRCh37
NC_000009.10:g.34639488C>T NCBI36
NG_009029.1:g.7854C>T
NG_028966.1:g.2307C>T
NG_009029.2:g.7903C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*574C>T ENSP00000509954.1:n.*574C>T
ENST00000378842.8:c.986C>T MANE Select ENSP00000368119.4:p.Ser329Phe
ENST00000378842.7:c.986C>T ENSP00000368119.3:p.Ser329Phe
ENST00000450095.6:c.659C>T ENSP00000401956.2:p.Ser220Phe
ENST00000488412.2:n.570C>T
ENST00000489643.6:n.1394C>T
ENST00000554550.5:c.*606C>T ENSP00000451435.1:n.*606C>T
ENST00000554638.5:n.1458C>T
ENST00000555020.5:n.1775C>T
ENST00000555754.1:n.434C>T
ENST00000556278.1:c.432+1035C>T ENSP00000451792.1:n.432+1035C>T
ENST00000557706.5:n.1561C>T
NM_000155.3:c.986C>T NP_000146.2:p.Ser329Phe
NM_001258332.1:c.659C>T NP_001245261.1:p.Ser220Phe
NM_000155.4:c.986C>T MANE Select NP_000146.2:p.Ser329Phe
NM_001258332.2:c.659C>T NP_001245261.1:p.Ser220Phe
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