Canonical Allele Identifier: CA5036239

Gene: GALT

Linked Data

• ClinVar Variation Id: 529226
• ClinVar RCV Id: RCV000634559
• dbSNP Id: rs775789069
• ExAC: 9:34649061 A / G
• gnomAD v2: 9-34649061-A-G
• gnomAD v4: 9-34649064-A-G
• COSMIC: COSM1756150
• MyVariant Identifiers: chr9:g.34649061A>G (hg19) ; chr9:g.34649064A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649064A>G , CM000671.2:g.34649064A>G	GRCh38
NC_000009.11:g.34649061A>G , CM000671.1:g.34649061A>G	GRCh37
NC_000009.10:g.34639061A>G	NCBI36
NG_009029.1:g.7427A>G
NG_028966.1:g.1880A>G
NG_009029.2:g.7476A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*475A>G	ENSP00000509954.1:n.*475A>G
ENST00000378842.8:c.887A>G MANE Select	ENSP00000368119.4:p.Tyr296Cys
ENST00000378842.7:c.887A>G	ENSP00000368119.3:p.Tyr296Cys
ENST00000450095.6:c.560A>G	ENSP00000401956.2:p.Tyr187Cys
ENST00000488412.2:n.143A>G
ENST00000489643.6:n.967A>G
ENST00000554550.5:c.*507A>G	ENSP00000451435.1:n.*507A>G
ENST00000554638.5:n.1359A>G
ENST00000555020.5:n.1348A>G
ENST00000555086.5:n.994A>G
ENST00000555754.1:n.335A>G
ENST00000556278.1:c.432+608A>G	ENSP00000451792.1:n.432+608A>G
ENST00000557706.5:n.1462A>G
NM_000155.3:c.887A>G	NP_000146.2:p.Tyr296Cys
NM_001258332.1:c.560A>G	NP_001245261.1:p.Tyr187Cys
NM_000155.4:c.887A>G MANE Select	NP_000146.2:p.Tyr296Cys
NM_001258332.2:c.560A>G	NP_001245261.1:p.Tyr187Cys