Canonical Allele Identifier: CA247494
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25267
dbSNP Id: rs111033765

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648886A>G , CM000671.2:g.34648886A>G GRCh38
NC_000009.11:g.34648883A>G , CM000671.1:g.34648883A>G GRCh37
NC_000009.10:g.34638883A>G NCBI36
NG_009029.1:g.7249A>G
NG_028966.1:g.1702A>G
NG_009029.2:g.7298A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*400A>G ENSP00000509954.1:n.*400A>G
ENST00000378842.8:c.812A>G MANE Select ENSP00000368119.4:p.Glu271Gly
ENST00000378842.7:c.812A>G ENSP00000368119.3:p.Glu271Gly
ENST00000450095.6:c.485A>G ENSP00000401956.2:p.Glu162Gly
ENST00000473506.6:c.*400A>G ENSP00000432839.2:n.*400A>G
ENST00000489643.6:n.892A>G
ENST00000554085.5:c.*556A>G ENSP00000450419.1:n.*556A>G
ENST00000554550.5:c.*432A>G ENSP00000451435.1:n.*432A>G
ENST00000554638.5:n.1284A>G
ENST00000555020.5:n.1273A>G
ENST00000555086.5:n.816A>G
ENST00000555754.1:n.157A>G
ENST00000556244.1:c.799A>G
ENST00000556278.1:c.432+430A>G ENSP00000451792.1:n.432+430A>G
ENST00000557706.5:n.1374A>G
NM_000155.3:c.812A>G NP_000146.2:p.Glu271Gly
NM_001258332.1:c.485A>G NP_001245261.1:p.Glu162Gly
NM_000155.4:c.812A>G MANE Select NP_000146.2:p.Glu271Gly
NM_001258332.2:c.485A>G NP_001245261.1:p.Glu162Gly