Canonical Allele Identifier: CA373278746
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647215C>G , CM000671.2:g.34647215C>G GRCh38
NC_000009.11:g.34647212C>G , CM000671.1:g.34647212C>G GRCh37
NC_000009.10:g.34637212C>G NCBI36
NG_009029.1:g.5578C>G
NG_028966.1:g.31C>G
NG_009029.2:g.5627C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.209C>G ENSP00000509954.1:p.Pro70Arg
ENST00000378842.8:c.209C>G MANE Select ENSP00000368119.4:p.Pro70Arg
ENST00000378842.7:c.209C>G ENSP00000368119.3:p.Pro70Arg
ENST00000450095.6:c.7C>G ENSP00000401956.2:p.Leu3Val
ENST00000465543.6:n.548C>G
ENST00000468099.2:n.249C>G
ENST00000472111.5:n.250C>G
ENST00000473506.6:c.209C>G ENSP00000432839.2:p.Pro70Arg
ENST00000473529.5:n.256C>G
ENST00000485531.1:n.202C>G
ENST00000487381.5:n.235C>G
ENST00000489643.6:n.239C>G
ENST00000554085.5:c.209C>G ENSP00000450419.1:p.Pro70Arg
ENST00000554139.5:n.262C>G
ENST00000554330.5:n.206C>G
ENST00000554550.5:c.209C>G ENSP00000451435.1:p.Pro70Arg
ENST00000554638.5:n.233C>G
ENST00000554897.5:c.209C>G ENSP00000450942.1:p.Pro70Arg
ENST00000554944.5:n.239C>G
ENST00000555020.5:n.239C>G
ENST00000555086.5:n.213C>G
ENST00000555214.5:n.218C>G
ENST00000556157.1:n.316C>G
ENST00000556244.1:c.93C>G
ENST00000556278.1:c.209C>G ENSP00000451792.1:p.Pro70Arg
ENST00000556403.5:n.222C>G
ENST00000556494.5:n.241C>G
ENST00000557541.5:n.402C>G
ENST00000557706.5:n.323C>G
NM_000155.3:c.209C>G NP_000146.2:p.Pro70Arg
NM_001258332.1:c.7C>G NP_001245261.1:p.Leu3Val
NM_000155.4:c.209C>G MANE Select NP_000146.2:p.Pro70Arg
NM_001258332.2:c.7C>G NP_001245261.1:p.Leu3Val