Canonical Allele Identifier: CA5036099

Gene: GALT

Linked Data

• ClinVar Variation Id: 495677
• ClinVar RCV Id: RCV000588277 ; RCV001276264 ; RCV002065130
• dbSNP Id: rs376026879
• ExAC: 9:34647709 A / G
• gnomAD v2: 9-34647709-A-G
• gnomAD v4: 9-34647712-A-G
• MyVariant Identifiers: chr9:g.34647709A>G (hg19) ; chr9:g.34647712A>G (hg38)
• PubMed: PMID:11919338

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647712A>G , CM000671.2:g.34647712A>G	GRCh38
NC_000009.11:g.34647709A>G , CM000671.1:g.34647709A>G	GRCh37
NC_000009.10:g.34637709A>G	NCBI36
NG_009029.1:g.6075A>G
NG_028966.1:g.528A>G
NG_009029.2:g.6124A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.329-120A>G	ENSP00000509954.1:n.329-120A>G
ENST00000378842.8:c.377+7A>G MANE Select	ENSP00000368119.4:n.377+7A>G
ENST00000378842.7:c.377+7A>G	ENSP00000368119.3:n.377+7A>G
ENST00000450095.6:c.51-120A>G	ENSP00000401956.2:n.51-120A>G
ENST00000465543.6:n.716+7A>G
ENST00000472111.5:n.514A>G
ENST00000473506.6:c.328+7A>G	ENSP00000432839.2:n.328+7A>G
ENST00000473529.5:n.513+7A>G
ENST00000485531.1:n.699A>G
ENST00000487381.5:n.643A>G
ENST00000489643.6:n.283-403A>G
ENST00000554085.5:c.*121+7A>G	ENSP00000450419.1:n.*121+7A>G
ENST00000554139.5:n.437A>G
ENST00000554330.5:n.421A>G
ENST00000554550.5:c.253-120A>G	ENSP00000451435.1:n.253-120A>G
ENST00000554638.5:n.730A>G
ENST00000554897.5:c.253-120A>G	ENSP00000450942.1:n.253-120A>G
ENST00000554944.5:n.454A>G
ENST00000555020.5:n.414A>G
ENST00000555086.5:n.381+7A>G
ENST00000555214.5:n.262-336A>G
ENST00000556157.1:n.508A>G
ENST00000556244.1:c.364+7A>G
ENST00000556278.1:c.253-403A>G	ENSP00000451792.1:n.253-403A>G
ENST00000556403.5:n.486A>G
ENST00000556494.5:n.498+7A>G
ENST00000557541.5:n.521+7A>G
ENST00000557706.5:n.820A>G
NM_000155.3:c.377+7A>G	NP_000146.2:n.377+7A>G
NM_001258332.1:c.51-120A>G	NP_001245261.1:n.51-120A>G
NM_000155.4:c.377+7A>G MANE Select	NP_000146.2:n.377+7A>G
NM_001258332.2:c.51-120A>G	NP_001245261.1:n.51-120A>G