Canonical Allele Identifier: CA259314
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25117
dbSNP Id: rs111033634

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646745delinsTT , CM000671.2:g.34646745delinsTT GRCh38
NC_000009.11:g.34646742delinsTT , CM000671.1:g.34646742delinsTT GRCh37
NC_000009.10:g.34636742delinsTT NCBI36
NG_009029.1:g.5108delinsTT
NG_009029.2:g.5157delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.41delinsTT ENSP00000509954.1:p.Ala14ValfsTer27
ENST00000378842.8:c.41delinsTT MANE Select ENSP00000368119.4:p.Ala14ValfsTer27
ENST00000378842.7:c.41delinsTT ENSP00000368119.3:p.Ala14ValfsTer27
ENST00000450095.6:c.-162delinsTT ENSP00000401956.2:n.-162delinsTT
ENST00000465543.6:n.78delinsTT
ENST00000468099.2:n.113delinsTT
ENST00000472111.5:n.82delinsTT
ENST00000473506.6:c.41delinsTT ENSP00000432839.2:p.Ala14ValfsTer27
ENST00000473529.5:n.88delinsTT
ENST00000487381.5:n.67delinsTT
ENST00000489643.6:n.71delinsTT
ENST00000554085.5:c.41delinsTT ENSP00000450419.1:p.Ala14ValfsTer27
ENST00000554139.5:n.94delinsTT
ENST00000554550.5:c.41delinsTT ENSP00000451435.1:p.Ala14ValfsTer27
ENST00000554638.5:n.65delinsTT
ENST00000554897.5:c.41delinsTT ENSP00000450942.1:p.Ala14ValfsTer27
ENST00000554944.5:n.71delinsTT
ENST00000555020.5:n.71delinsTT
ENST00000555214.5:n.50delinsTT
ENST00000556278.1:c.41delinsTT ENSP00000451792.1:p.Ala14ValfsTer27
ENST00000557541.5:n.101delinsTT
ENST00000605275.1:n.277delinsTT
NM_000155.3:c.41delinsTT NP_000146.2:p.Ala14ValfsTer27
NM_001258332.1:c.-162delinsTT NP_001245261.1:n.-162delinsTT
NM_000155.4:c.41delinsTT MANE Select NP_000146.2:p.Ala14ValfsTer27
NM_001258332.2:c.-162delinsTT NP_001245261.1:n.-162delinsTT