Canonical Allele Identifier: CA5036096

Gene: GALT

Linked Data

• ClinVar Variation Id: 2794292
• ClinVar RCV Id: RCV003609544
• dbSNP Id: rs111033681
• ExAC: 9:34647703 G / A
• gnomAD v2: 9-34647703-G-A
• gnomAD v4: 9-34647706-G-A
• MyVariant Identifiers: chr9:g.34647703G>A (hg19) ; chr9:g.34647706G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647706G>A , CM000671.2:g.34647706G>A	GRCh38
NC_000009.11:g.34647703G>A , CM000671.1:g.34647703G>A	GRCh37
NC_000009.10:g.34637703G>A	NCBI36
NG_009029.1:g.6069G>A
NG_028966.1:g.522G>A
NG_009029.2:g.6118G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.329-126G>A	ENSP00000509954.1:n.329-126G>A
ENST00000378842.8:c.377+1G>A MANE Select	ENSP00000368119.4:n.377+1G>A
ENST00000378842.7:c.377+1G>A	ENSP00000368119.3:n.377+1G>A
ENST00000450095.6:c.51-126G>A	ENSP00000401956.2:n.51-126G>A
ENST00000465543.6:n.716+1G>A
ENST00000472111.5:n.508G>A
ENST00000473506.6:c.328+1G>A	ENSP00000432839.2:n.328+1G>A
ENST00000473529.5:n.513+1G>A
ENST00000485531.1:n.693G>A
ENST00000487381.5:n.637G>A
ENST00000489643.6:n.283-409G>A
ENST00000554085.5:c.*121+1G>A	ENSP00000450419.1:n.*121+1G>A
ENST00000554139.5:n.431G>A
ENST00000554330.5:n.415G>A
ENST00000554550.5:c.253-126G>A	ENSP00000451435.1:n.253-126G>A
ENST00000554638.5:n.724G>A
ENST00000554897.5:c.253-126G>A	ENSP00000450942.1:n.253-126G>A
ENST00000554944.5:n.448G>A
ENST00000555020.5:n.408G>A
ENST00000555086.5:n.381+1G>A
ENST00000555214.5:n.262-342G>A
ENST00000556157.1:n.502G>A
ENST00000556244.1:c.364+1G>A
ENST00000556278.1:c.253-409G>A	ENSP00000451792.1:n.253-409G>A
ENST00000556403.5:n.480G>A
ENST00000556494.5:n.498+1G>A
ENST00000557541.5:n.521+1G>A
ENST00000557706.5:n.814G>A
NM_000155.3:c.377+1G>A	NP_000146.2:n.377+1G>A
NM_001258332.1:c.51-126G>A	NP_001245261.1:n.51-126G>A
NM_000155.4:c.377+1G>A MANE Select	NP_000146.2:n.377+1G>A
NM_001258332.2:c.51-126G>A	NP_001245261.1:n.51-126G>A