Canonical Allele Identifier: CA252843

Gene: GALT

Linked Data

• ClinVar Variation Id: 3609
• ClinVar RCV Id: RCV000003793 ; RCV000185916 ; RCV001826409 ; RCV003398436
• dbSNP Id: rs111033695
• ExAC: 9:34647876 T / A
• gnomAD v2: 9-34647876-T-A
• gnomAD v3: 9-34647879-T-A
• gnomAD v4: 9-34647879-T-A
• MyVariant Identifiers: chr9:g.34647876T>A (hg19) ; chr9:g.34647879T>A (hg38)
• PubMed: PMID:2011574 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647879T>A , CM000671.2:g.34647879T>A	GRCh38
NC_000009.11:g.34647876T>A , CM000671.1:g.34647876T>A	GRCh37
NC_000009.10:g.34637876T>A	NCBI36
NG_009029.1:g.6242T>A
NG_028966.1:g.695T>A
NG_009029.2:g.6291T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*13T>A	ENSP00000509954.1:n.*13T>A
ENST00000378842.8:c.425T>A MANE Select	ENSP00000368119.4:p.Met142Lys
ENST00000378842.7:c.425T>A	ENSP00000368119.3:p.Met142Lys
ENST00000450095.6:c.98T>A	ENSP00000401956.2:p.Met33Lys
ENST00000465543.6:n.764T>A
ENST00000472111.5:n.681T>A
ENST00000473506.6:c.*13T>A	ENSP00000432839.2:n.*13T>A
ENST00000473529.5:n.561T>A
ENST00000485531.1:n.866T>A
ENST00000487381.5:n.810T>A
ENST00000489643.6:n.283-236T>A
ENST00000554085.5:c.*169T>A	ENSP00000450419.1:n.*169T>A
ENST00000554139.5:n.604T>A
ENST00000554550.5:c.*45T>A	ENSP00000451435.1:n.*45T>A
ENST00000554638.5:n.897T>A
ENST00000554897.5:c.*45T>A	ENSP00000450942.1:n.*45T>A
ENST00000554944.5:n.621T>A
ENST00000555020.5:n.581T>A
ENST00000555086.5:n.429T>A
ENST00000555214.5:n.262-169T>A
ENST00000556244.1:c.412T>A
ENST00000556278.1:c.253-236T>A	ENSP00000451792.1:n.253-236T>A
ENST00000556494.5:n.546T>A
ENST00000557541.5:n.569T>A
ENST00000557706.5:n.987T>A
NM_000155.3:c.425T>A	NP_000146.2:p.Met142Lys
NM_001258332.1:c.98T>A	NP_001245261.1:p.Met33Lys
NM_000155.4:c.425T>A MANE Select	NP_000146.2:p.Met142Lys
NM_001258332.2:c.98T>A	NP_001245261.1:p.Met33Lys