Canonical Allele Identifier: CA259571
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25319
ClinVar RCV Id: RCV000022265
dbSNP Id: rs111033812

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649529C>A , CM000671.2:g.34649529C>A GRCh38
NC_000009.11:g.34649526C>A , CM000671.1:g.34649526C>A GRCh37
NC_000009.10:g.34639526C>A NCBI36
NG_009029.1:g.7892C>A
NG_028966.1:g.2345C>A
NG_009029.2:g.7941C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*612C>A ENSP00000509954.1:n.*612C>A
ENST00000378842.8:c.1024C>A MANE Select ENSP00000368119.4:p.Leu342Ile
ENST00000378842.7:c.1024C>A ENSP00000368119.3:p.Leu342Ile
ENST00000450095.6:c.697C>A ENSP00000401956.2:p.Leu233Ile
ENST00000488412.2:n.608C>A
ENST00000489643.6:n.1432C>A
ENST00000554550.5:c.*644C>A ENSP00000451435.1:n.*644C>A
ENST00000554638.5:n.1496C>A
ENST00000555020.5:n.1813C>A
ENST00000555754.1:n.472C>A
ENST00000556278.1:c.432+1073C>A ENSP00000451792.1:n.432+1073C>A
ENST00000557706.5:n.1599C>A
NM_000155.3:c.1024C>A NP_000146.2:p.Leu342Ile
NM_001258332.1:c.697C>A NP_001245261.1:p.Leu233Ile
NM_000155.4:c.1024C>A MANE Select NP_000146.2:p.Leu342Ile
NM_001258332.2:c.697C>A NP_001245261.1:p.Leu233Ile