Canonical Allele Identifier: CA373278170
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646709C>G , CM000671.2:g.34646709C>G GRCh38
NC_000009.11:g.34646706C>G , CM000671.1:g.34646706C>G GRCh37
NC_000009.10:g.34636706C>G NCBI36
NG_009029.1:g.5072C>G
NG_009029.2:g.5121C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.5C>G ENSP00000509954.1:p.Ser2Trp
ENST00000378842.8:c.5C>G MANE Select ENSP00000368119.4:p.Ser2Trp
ENST00000378842.7:c.5C>G ENSP00000368119.3:p.Ser2Trp
ENST00000450095.6:c.-198C>G ENSP00000401956.2:n.-198C>G
ENST00000465543.6:n.42C>G
ENST00000468099.2:n.77C>G
ENST00000472111.5:n.46C>G
ENST00000473506.6:c.5C>G ENSP00000432839.2:p.Ser2Trp
ENST00000473529.5:n.52C>G
ENST00000487381.5:n.31C>G
ENST00000489643.6:n.35C>G
ENST00000554085.5:c.5C>G ENSP00000450419.1:p.Ser2Trp
ENST00000554139.5:n.58C>G
ENST00000554550.5:c.5C>G ENSP00000451435.1:p.Ser2Trp
ENST00000554638.5:n.29C>G
ENST00000554897.5:c.5C>G ENSP00000450942.1:p.Ser2Trp
ENST00000554944.5:n.35C>G
ENST00000555020.5:n.35C>G
ENST00000555214.5:n.14C>G
ENST00000556278.1:c.5C>G ENSP00000451792.1:p.Ser2Trp
ENST00000557541.5:n.65C>G
ENST00000605275.1:n.241C>G
NM_000155.3:c.5C>G NP_000146.2:p.Ser2Trp
NM_001258332.1:c.-198C>G NP_001245261.1:n.-198C>G
NM_000155.4:c.5C>G MANE Select NP_000146.2:p.Ser2Trp
NM_001258332.2:c.-198C>G NP_001245261.1:n.-198C>G