Canonical Allele Identifier: CA5036151

Gene: GALT

Linked Data

• ClinVar Variation Id: 281074
• ClinVar RCV Id: RCV000400615 ; RCV000872897 ; RCV001276330 ; RCV001698758
• dbSNP Id: rs61735984
• ExAC: 9:34648114 C / A
• gnomAD v2: 9-34648114-C-A
• gnomAD v3: 9-34648117-C-A
• gnomAD v4: 9-34648117-C-A
• MyVariant Identifiers: chr9:g.34648114C>A (hg19) ; chr9:g.34648117C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648117C>A , CM000671.2:g.34648117C>A	GRCh38
NC_000009.11:g.34648114C>A , CM000671.1:g.34648114C>A	GRCh37
NC_000009.10:g.34638114C>A	NCBI36
NG_009029.1:g.6480C>A
NG_028966.1:g.933C>A
NG_009029.2:g.6529C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*98C>A	ENSP00000509954.1:n.*98C>A
ENST00000378842.8:c.510C>A MANE Select	ENSP00000368119.4:p.Ile170=
ENST00000378842.7:c.510C>A	ENSP00000368119.3:p.Ile170=
ENST00000450095.6:c.183C>A	ENSP00000401956.2:p.Ile61=
ENST00000465543.6:n.849C>A
ENST00000472111.5:n.766C>A
ENST00000473506.6:c.*98C>A	ENSP00000432839.2:n.*98C>A
ENST00000473529.5:n.669C>A
ENST00000485531.1:n.1104C>A
ENST00000487381.5:n.895C>A
ENST00000489643.6:n.285C>A
ENST00000554085.5:c.*254C>A	ENSP00000450419.1:n.*254C>A
ENST00000554139.5:n.756C>A
ENST00000554550.5:c.*130C>A	ENSP00000451435.1:n.*130C>A
ENST00000554638.5:n.982C>A
ENST00000554897.5:c.*197C>A	ENSP00000450942.1:n.*197C>A
ENST00000554944.5:n.859C>A
ENST00000555020.5:n.666C>A
ENST00000555086.5:n.514C>A
ENST00000555214.5:n.331C>A
ENST00000556244.1:c.497C>A
ENST00000556278.1:c.255C>A	ENSP00000451792.1:p.Ile85=
ENST00000556494.5:n.631C>A
ENST00000557706.5:n.1072C>A
NM_000155.3:c.510C>A	NP_000146.2:p.Ile170=
NM_001258332.1:c.183C>A	NP_001245261.1:p.Ile61=
NM_000155.4:c.510C>A MANE Select	NP_000146.2:p.Ile170=
NM_001258332.2:c.183C>A	NP_001245261.1:p.Ile61=