Canonical Allele Identifier: CA16618851
Gene: GALT HGNC NCBI

Linked Data

ClinVar Variation Id: 420114
ClinVar RCV Id: RCV000482754 RCV001223654
dbSNP Id: rs1064794295
MyVariant Identifiers: chr9:g.34649073G>A (hg19) chr9:g.34649076G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649076G>A , CM000671.2:g.34649076G>A GRCh38
NC_000009.11:g.34649073G>A , CM000671.1:g.34649073G>A GRCh37
NC_000009.10:g.34639073G>A NCBI36
NG_009029.1:g.7439G>A
NG_028966.1:g.1892G>A
NG_009029.2:g.7488G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*487G>A ENSP00000509954.1:n.*487G>A
ENST00000378842.8:c.899G>A MANE Select ENSP00000368119.4:p.Trp300Ter
ENST00000378842.7:c.899G>A ENSP00000368119.3:p.Trp300Ter
ENST00000450095.6:c.572G>A ENSP00000401956.2:p.Trp191Ter
ENST00000488412.2:n.155G>A
ENST00000489643.6:n.979G>A
ENST00000554550.5:c.*519G>A ENSP00000451435.1:n.*519G>A
ENST00000554638.5:n.1371G>A
ENST00000555020.5:n.1360G>A
ENST00000555086.5:n.1006G>A
ENST00000555754.1:n.347G>A
ENST00000556278.1:c.432+620G>A ENSP00000451792.1:n.432+620G>A
ENST00000557706.5:n.1474G>A
NM_000155.3:c.899G>A NP_000146.2:p.Trp300Ter
NM_001258332.1:c.572G>A NP_001245261.1:p.Trp191Ter
NM_000155.4:c.899G>A MANE Select NP_000146.2:p.Trp300Ter
NM_001258332.2:c.572G>A NP_001245261.1:p.Trp191Ter
Search 100 bp 5'
Search 100 bp 3'