Canonical Allele Identifier: CA373283938

Gene: GALT

Linked Data

• ClinVar Variation Id: 554966
• ClinVar RCV Id: RCV000670694
• dbSNP Id: rs777023967
• gnomAD v2: 9-34648859-G-A
• gnomAD v3: 9-34648862-G-A
• gnomAD v4: 9-34648862-G-A
• COSMIC: COSM3716176
• MyVariant Identifiers: chr9:g.34648859G>A (hg19) ; chr9:g.34648862G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648862G>A , CM000671.2:g.34648862G>A	GRCh38
NC_000009.11:g.34648859G>A , CM000671.1:g.34648859G>A	GRCh37
NC_000009.10:g.34638859G>A	NCBI36
NG_009029.1:g.7225G>A
NG_028966.1:g.1678G>A
NG_009029.2:g.7274G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*376G>A	ENSP00000509954.1:n.*376G>A
ENST00000378842.8:c.788G>A MANE Select	ENSP00000368119.4:p.Arg263Gln
ENST00000378842.7:c.788G>A	ENSP00000368119.3:p.Arg263Gln
ENST00000450095.6:c.461G>A	ENSP00000401956.2:p.Arg154Gln
ENST00000473506.6:c.*376G>A	ENSP00000432839.2:n.*376G>A
ENST00000489643.6:n.868G>A
ENST00000554085.5:c.*532G>A	ENSP00000450419.1:n.*532G>A
ENST00000554550.5:c.*408G>A	ENSP00000451435.1:n.*408G>A
ENST00000554638.5:n.1260G>A
ENST00000555020.5:n.1249G>A
ENST00000555086.5:n.792G>A
ENST00000555754.1:n.133G>A
ENST00000556244.1:c.775G>A
ENST00000556278.1:c.432+406G>A	ENSP00000451792.1:n.432+406G>A
ENST00000557706.5:n.1350G>A
NM_000155.3:c.788G>A	NP_000146.2:p.Arg263Gln
NM_001258332.1:c.461G>A	NP_001245261.1:p.Arg154Gln
NM_000155.4:c.788G>A MANE Select	NP_000146.2:p.Arg263Gln
NM_001258332.2:c.461G>A	NP_001245261.1:p.Arg154Gln