Canonical Allele Identifier: CA5036311

Gene: GALT

Linked Data

• ClinVar Variation Id: 439751
• ClinVar RCV Id: RCV000506085 ; RCV001168795 ; RCV001276338
• dbSNP Id: rs370285476
• ExAC: 9:34650454 G / A
• gnomAD v2: 9-34650454-G-A
• gnomAD v3: 9-34650457-G-A
• gnomAD v4: 9-34650457-G-A
• MyVariant Identifiers: chr9:g.34650454G>A (hg19) ; chr9:g.34650457G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34650457G>A , CM000671.2:g.34650457G>A	GRCh38
NC_000009.11:g.34650454G>A , CM000671.1:g.34650454G>A	GRCh37
NC_000009.10:g.34640454G>A	NCBI36
NG_009029.1:g.8820G>A
NG_028966.1:g.3273G>A
NG_009029.2:g.8869G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*736G>A	ENSP00000509954.1:n.*736G>A
ENST00000378842.8:c.*8G>A MANE Select	ENSP00000368119.4:n.*8G>A
ENST00000378842.7:c.*8G>A	ENSP00000368119.3:n.*8G>A
ENST00000450095.6:c.*8G>A	ENSP00000401956.2:n.*8G>A
ENST00000488412.2:n.732G>A
ENST00000554550.5:c.*768G>A	ENSP00000451435.1:n.*768G>A
ENST00000554638.5:n.1620G>A
ENST00000555754.1:n.596G>A
ENST00000556278.1:c.432+2001G>A	ENSP00000451792.1:n.432+2001G>A
ENST00000557706.5:n.1723G>A
NM_000155.3:c.*8G>A	NP_000146.2:n.*8G>A
NM_001258332.1:c.*8G>A	NP_001245261.1:n.*8G>A
NM_000155.4:c.*8G>A MANE Select	NP_000146.2:n.*8G>A
NM_001258332.2:c.*8G>A	NP_001245261.1:n.*8G>A