Canonical Allele Identifier: CA259487
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 37354
ClinVar RCV Id: RCV000506385
dbSNP Id: rs111033759
MyVariant Identifiers: chr9:g.34648819C>A (hg19) chr9:g.34648822C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648822C>A , CM000671.2:g.34648822C>A GRCh38
NC_000009.11:g.34648819C>A , CM000671.1:g.34648819C>A GRCh37
NC_000009.10:g.34638819C>A NCBI36
NG_009029.1:g.7185C>A
NG_028966.1:g.1638C>A
NG_009029.2:g.7234C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*336C>A ENSP00000509954.1:n.*336C>A
ENST00000378842.8:c.748C>A MANE Select ENSP00000368119.4:p.Pro250Thr
ENST00000378842.7:c.748C>A ENSP00000368119.3:p.Pro250Thr
ENST00000450095.6:c.421C>A ENSP00000401956.2:p.Pro141Thr
ENST00000473506.6:c.*336C>A ENSP00000432839.2:n.*336C>A
ENST00000473529.5:n.907C>A
ENST00000487381.5:n.1438C>A
ENST00000489643.6:n.828C>A
ENST00000554085.5:c.*492C>A ENSP00000450419.1:n.*492C>A
ENST00000554550.5:c.*368C>A ENSP00000451435.1:n.*368C>A
ENST00000554638.5:n.1220C>A
ENST00000555020.5:n.1209C>A
ENST00000555086.5:n.752C>A
ENST00000555754.1:n.93C>A
ENST00000556244.1:c.735C>A
ENST00000556278.1:c.432+366C>A ENSP00000451792.1:n.432+366C>A
ENST00000557706.5:n.1310C>A
NM_000155.3:c.748C>A NP_000146.2:p.Pro250Thr
NM_001258332.1:c.421C>A NP_001245261.1:p.Pro141Thr
NM_000155.4:c.748C>A MANE Select NP_000146.2:p.Pro250Thr
NM_001258332.2:c.421C>A NP_001245261.1:p.Pro141Thr
Search 100 bp 5'
Search 100 bp 3'