Canonical Allele Identifier: CA259478

Gene: GALT

Linked Data

• ClinVar Variation Id: 25247
• ClinVar RCV Id: RCV000022185 ; RCV001826498 ; RCV002254268
• dbSNP Id: rs111033754
• gnomAD v2: 9-34648763-G-A
• gnomAD v3: 9-34648766-G-A
• gnomAD v4: 9-34648766-G-A
• MyVariant Identifiers: chr9:g.34648763G>A (hg19) ; chr9:g.34648766G>A (hg38)
• PubMed: PMID:7550229

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648766G>A , CM000671.2:g.34648766G>A	GRCh38
NC_000009.11:g.34648763G>A , CM000671.1:g.34648763G>A	GRCh37
NC_000009.10:g.34638763G>A	NCBI36
NG_009029.1:g.7129G>A
NG_028966.1:g.1582G>A
NG_009029.2:g.7178G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*280G>A	ENSP00000509954.1:n.*280G>A
ENST00000378842.8:c.692G>A MANE Select	ENSP00000368119.4:p.Arg231His
ENST00000378842.7:c.692G>A	ENSP00000368119.3:p.Arg231His
ENST00000450095.6:c.365G>A	ENSP00000401956.2:p.Arg122His
ENST00000473506.6:c.*280G>A	ENSP00000432839.2:n.*280G>A
ENST00000473529.5:n.851G>A
ENST00000487381.5:n.1382G>A
ENST00000489643.6:n.772G>A
ENST00000554085.5:c.*436G>A	ENSP00000450419.1:n.*436G>A
ENST00000554550.5:c.*312G>A	ENSP00000451435.1:n.*312G>A
ENST00000554638.5:n.1164G>A
ENST00000555020.5:n.1153G>A
ENST00000555086.5:n.696G>A
ENST00000555754.1:n.37G>A
ENST00000556244.1:c.679G>A
ENST00000556278.1:c.432+310G>A	ENSP00000451792.1:n.432+310G>A
ENST00000557706.5:n.1254G>A
NM_000155.3:c.692G>A	NP_000146.2:p.Arg231His
NM_001258332.1:c.365G>A	NP_001245261.1:p.Arg122His
NM_000155.4:c.692G>A MANE Select	NP_000146.2:p.Arg231His
NM_001258332.2:c.365G>A	NP_001245261.1:p.Arg122His