Canonical Allele Identifier: CA312562

Gene: GALT

Linked Data

• ClinVar Variation Id: 25142
• ClinVar RCV Id: RCV000022073 ; RCV000185912 ; RCV004018660 ; RCV001826489
• dbSNP Id: rs111033661
• ExAC: 9:34647487 A / G
• gnomAD v2: 9-34647487-A-G
• gnomAD v4: 9-34647490-A-G
• MyVariant Identifiers: chr9:g.34647487A>G (hg19) ; chr9:g.34647490A>G (hg38)
• PubMed: PMID:11754113 ; PMID:17079880 ; PMID:17876724 ; PMID:17884932 ; PMID:18956253 ; PMID:19375122 ; PMID:20301691 ; PMID:22944367 ; PMID:24045215 ; PMID:24973740 ; PMID:25124065

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647490A>G , CM000671.2:g.34647490A>G	GRCh38
NC_000009.11:g.34647487A>G , CM000671.1:g.34647487A>G	GRCh37
NC_000009.10:g.34637487A>G	NCBI36
NG_009029.1:g.5853A>G
NG_028966.1:g.306A>G
NG_009029.2:g.5902A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.253-2A>G	ENSP00000509954.1:n.253-2A>G
ENST00000378842.8:c.253-2A>G MANE Select	ENSP00000368119.4:n.253-2A>G
ENST00000378842.7:c.253-2A>G	ENSP00000368119.3:n.253-2A>G
ENST00000450095.6:c.50+232A>G	ENSP00000401956.2:n.50+232A>G
ENST00000465543.6:n.592-2A>G
ENST00000468099.2:n.524A>G
ENST00000472111.5:n.294-2A>G
ENST00000473506.6:c.253-51A>G	ENSP00000432839.2:n.253-51A>G
ENST00000473529.5:n.300-2A>G
ENST00000485531.1:n.477A>G
ENST00000487381.5:n.510A>G
ENST00000489643.6:n.282+232A>G
ENST00000554085.5:c.268A>G	ENSP00000450419.1:p.Arg90Gly
ENST00000554139.5:n.306-2A>G
ENST00000554330.5:n.250-51A>G
ENST00000554550.5:c.252+232A>G	ENSP00000451435.1:n.252+232A>G
ENST00000554638.5:n.508A>G
ENST00000554897.5:c.252+232A>G	ENSP00000450942.1:n.252+232A>G
ENST00000554944.5:n.283-51A>G
ENST00000555020.5:n.283-2A>G
ENST00000555086.5:n.257-2A>G
ENST00000555214.5:n.261+232A>G
ENST00000556157.1:n.375A>G
ENST00000556244.1:c.238A>G
ENST00000556278.1:c.252+232A>G	ENSP00000451792.1:n.252+232A>G
ENST00000556403.5:n.266-2A>G
ENST00000556494.5:n.285-2A>G
ENST00000557541.5:n.446-51A>G
ENST00000557706.5:n.598A>G
NM_000155.3:c.253-2A>G	NP_000146.2:n.253-2A>G
NM_001258332.1:c.50+232A>G	NP_001245261.1:n.50+232A>G
NM_000155.4:c.253-2A>G MANE Select	NP_000146.2:n.253-2A>G
NM_001258332.2:c.50+232A>G	NP_001245261.1:n.50+232A>G