Canonical Allele Identifier: CA116380

Gene: GALT

Linked Data

• ClinVar Variation Id: 3613
• ClinVar RCV Id: RCV000003797 ; RCV000022233 ; RCV000078243 ; RCV000309989 ; RCV003891427
• dbSNP Id: rs2070074
• ExAC: 9:34649442 A / G
• gnomAD v2: 9-34649442-A-G
• gnomAD v3: 9-34649445-A-G
• gnomAD v4: 9-34649445-A-G
• MyVariant Identifiers: chr9:g.34649442A>G (hg19) ; chr9:g.34649445A>G (hg38)
• PubMed: PMID:2011574 ; PMID:4759900 ; PMID:7550229 ; PMID:8198125 ; PMID:8892021 ; PMID:9012409 ; PMID:9222760 ; PMID:9450900 ; PMID:10424825 ; PMID:11152465 ; PMID:11286503 ; PMID:11479743 ; PMID:19224951 ; PMID:19581158 ; PMID:20301691 ; PMID:21228398 ; PMID:22963887 ; PMID:25087612 ; PMID:25473725 ; PMID:25592817 ; PMID:25614870

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649445A>G , CM000671.2:g.34649445A>G	GRCh38
NC_000009.11:g.34649442A>G , CM000671.1:g.34649442A>G	GRCh37
NC_000009.10:g.34639442A>G	NCBI36
NG_009029.1:g.7808A>G
NG_028966.1:g.2261A>G
NG_009029.2:g.7857A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*528A>G	ENSP00000509954.1:n.*528A>G
ENST00000378842.8:c.940A>G MANE Select	ENSP00000368119.4:p.Asn314Asp
ENST00000378842.7:c.940A>G	ENSP00000368119.3:p.Asn314Asp
ENST00000450095.6:c.613A>G	ENSP00000401956.2:p.Asn205Asp
ENST00000488412.2:n.524A>G
ENST00000489643.6:n.1348A>G
ENST00000554550.5:c.*560A>G	ENSP00000451435.1:n.*560A>G
ENST00000554638.5:n.1412A>G
ENST00000555020.5:n.1729A>G
ENST00000555754.1:n.388A>G
ENST00000556278.1:c.432+989A>G	ENSP00000451792.1:n.432+989A>G
ENST00000557706.5:n.1515A>G
NM_000155.3:c.940A>G	NP_000146.2:p.Asn314Asp
NM_001258332.1:c.613A>G	NP_001245261.1:p.Asn205Asp
NM_000155.4:c.940A>G MANE Select	NP_000146.2:p.Asn314Asp
NM_001258332.2:c.613A>G	NP_001245261.1:p.Asn205Asp