Canonical Allele Identifier: CA373278741
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647213C>G , CM000671.2:g.34647213C>G GRCh38
NC_000009.11:g.34647210C>G , CM000671.1:g.34647210C>G GRCh37
NC_000009.10:g.34637210C>G NCBI36
NG_009029.1:g.5576C>G
NG_028966.1:g.29C>G
NG_009029.2:g.5625C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.207C>G ENSP00000509954.1:p.Asp69Glu
ENST00000378842.8:c.207C>G MANE Select ENSP00000368119.4:p.Asp69Glu
ENST00000378842.7:c.207C>G ENSP00000368119.3:p.Asp69Glu
ENST00000450095.6:c.5C>G ENSP00000401956.2:p.Thr2Ser
ENST00000465543.6:n.546C>G
ENST00000468099.2:n.247C>G
ENST00000472111.5:n.248C>G
ENST00000473506.6:c.207C>G ENSP00000432839.2:p.Asp69Glu
ENST00000473529.5:n.254C>G
ENST00000485531.1:n.200C>G
ENST00000487381.5:n.233C>G
ENST00000489643.6:n.237C>G
ENST00000554085.5:c.207C>G ENSP00000450419.1:p.Asp69Glu
ENST00000554139.5:n.260C>G
ENST00000554330.5:n.204C>G
ENST00000554550.5:c.207C>G ENSP00000451435.1:p.Asp69Glu
ENST00000554638.5:n.231C>G
ENST00000554897.5:c.207C>G ENSP00000450942.1:p.Asp69Glu
ENST00000554944.5:n.237C>G
ENST00000555020.5:n.237C>G
ENST00000555086.5:n.211C>G
ENST00000555214.5:n.216C>G
ENST00000556157.1:n.314C>G
ENST00000556244.1:c.91C>G
ENST00000556278.1:c.207C>G ENSP00000451792.1:p.Asp69Glu
ENST00000556403.5:n.220C>G
ENST00000556494.5:n.239C>G
ENST00000557541.5:n.400C>G
ENST00000557706.5:n.321C>G
NM_000155.3:c.207C>G NP_000146.2:p.Asp69Glu
NM_001258332.1:c.5C>G NP_001245261.1:p.Thr2Ser
NM_000155.4:c.207C>G MANE Select NP_000146.2:p.Asp69Glu
NM_001258332.2:c.5C>G NP_001245261.1:p.Thr2Ser