Canonical Allele Identifier: CA373284628
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649410G>A , CM000671.2:g.34649410G>A GRCh38
NC_000009.11:g.34649407G>A , CM000671.1:g.34649407G>A GRCh37
NC_000009.10:g.34639407G>A NCBI36
NG_009029.1:g.7773G>A
NG_028966.1:g.2226G>A
NG_009029.2:g.7822G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*493G>A ENSP00000509954.1:n.*493G>A
ENST00000378842.8:c.905G>A MANE Select ENSP00000368119.4:p.Gly302Glu
ENST00000378842.7:c.905G>A ENSP00000368119.3:p.Gly302Glu
ENST00000450095.6:c.578G>A ENSP00000401956.2:p.Gly193Glu
ENST00000488412.2:n.489G>A
ENST00000489643.6:n.1313G>A
ENST00000554550.5:c.*525G>A ENSP00000451435.1:n.*525G>A
ENST00000554638.5:n.1377G>A
ENST00000555020.5:n.1694G>A
ENST00000555754.1:n.353G>A
ENST00000556278.1:c.432+954G>A ENSP00000451792.1:n.432+954G>A
ENST00000557706.5:n.1480G>A
NM_000155.3:c.905G>A NP_000146.2:p.Gly302Glu
NM_001258332.1:c.578G>A NP_001245261.1:p.Gly193Glu
NM_000155.4:c.905G>A MANE Select NP_000146.2:p.Gly302Glu
NM_001258332.2:c.578G>A NP_001245261.1:p.Gly193Glu