Canonical Allele Identifier: CA259572

Gene: GALT

Linked Data

• ClinVar Variation Id: 25320
• ClinVar RCV Id: RCV000022266 ; RCV000224058
• dbSNP Id: rs111033814
• gnomAD v2: 9-34649532-C-A
• gnomAD v3: 9-34649535-C-A
• gnomAD v4: 9-34649535-C-A
• MyVariant Identifiers: chr9:g.34649532C>A (hg19) ; chr9:g.34649535C>A (hg38)
• PubMed: PMID:11261429

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649535C>A , CM000671.2:g.34649535C>A	GRCh38
NC_000009.11:g.34649532C>A , CM000671.1:g.34649532C>A	GRCh37
NC_000009.10:g.34639532C>A	NCBI36
NG_009029.1:g.7898C>A
NG_028966.1:g.2351C>A
NG_009029.2:g.7947C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*618C>A	ENSP00000509954.1:n.*618C>A
ENST00000378842.8:c.1030C>A MANE Select	ENSP00000368119.4:p.Gln344Lys
ENST00000378842.7:c.1030C>A	ENSP00000368119.3:p.Gln344Lys
ENST00000450095.6:c.703C>A	ENSP00000401956.2:p.Gln235Lys
ENST00000488412.2:n.614C>A
ENST00000489643.6:n.1438C>A
ENST00000554550.5:c.*650C>A	ENSP00000451435.1:n.*650C>A
ENST00000554638.5:n.1502C>A
ENST00000555020.5:n.1819C>A
ENST00000555754.1:n.478C>A
ENST00000556278.1:c.432+1079C>A	ENSP00000451792.1:n.432+1079C>A
ENST00000557706.5:n.1605C>A
NM_000155.3:c.1030C>A	NP_000146.2:p.Gln344Lys
NM_001258332.1:c.703C>A	NP_001245261.1:p.Gln235Lys
NM_000155.4:c.1030C>A MANE Select	NP_000146.2:p.Gln344Lys
NM_001258332.2:c.703C>A	NP_001245261.1:p.Gln235Lys