Canonical Allele Identifier: CA259535
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 25292
ClinVar RCV Id: RCV000022236
dbSNP Id: rs111033791
MyVariant Identifiers: chr9:g.34649450G>A (hg19) chr9:g.34649453G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649453G>A , CM000671.2:g.34649453G>A GRCh38
NC_000009.11:g.34649450G>A , CM000671.1:g.34649450G>A GRCh37
NC_000009.10:g.34639450G>A NCBI36
NG_009029.1:g.7816G>A
NG_028966.1:g.2269G>A
NG_009029.2:g.7865G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*536G>A ENSP00000509954.1:n.*536G>A
ENST00000378842.8:c.948G>A MANE Select ENSP00000368119.4:p.Trp316Ter
ENST00000378842.7:c.948G>A ENSP00000368119.3:p.Trp316Ter
ENST00000450095.6:c.621G>A ENSP00000401956.2:p.Trp207Ter
ENST00000488412.2:n.532G>A
ENST00000489643.6:n.1356G>A
ENST00000554550.5:c.*568G>A ENSP00000451435.1:n.*568G>A
ENST00000554638.5:n.1420G>A
ENST00000555020.5:n.1737G>A
ENST00000555754.1:n.396G>A
ENST00000556278.1:c.432+997G>A ENSP00000451792.1:n.432+997G>A
ENST00000557706.5:n.1523G>A
NM_000155.3:c.948G>A NP_000146.2:p.Trp316Ter
NM_001258332.1:c.621G>A NP_001245261.1:p.Trp207Ter
NM_000155.4:c.948G>A MANE Select NP_000146.2:p.Trp316Ter
NM_001258332.2:c.621G>A NP_001245261.1:p.Trp207Ter
Search 100 bp 5'
Search 100 bp 3'