Canonical Allele Identifier: CA373284681

Gene: GALT

Linked Data

• dbSNP Id: rs1426199841
• MyVariant Identifiers: chr9:g.34649419G>A (hg19) ; chr9:g.34649422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649422G>A , CM000671.2:g.34649422G>A	GRCh38
NC_000009.11:g.34649419G>A , CM000671.1:g.34649419G>A	GRCh37
NC_000009.10:g.34639419G>A	NCBI36
NG_009029.1:g.7785G>A
NG_028966.1:g.2238G>A
NG_009029.2:g.7834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*505G>A	ENSP00000509954.1:n.*505G>A
ENST00000378842.8:c.917G>A MANE Select	ENSP00000368119.4:p.Gly306Glu
ENST00000378842.7:c.917G>A	ENSP00000368119.3:p.Gly306Glu
ENST00000450095.6:c.590G>A	ENSP00000401956.2:p.Gly197Glu
ENST00000488412.2:n.501G>A
ENST00000489643.6:n.1325G>A
ENST00000554550.5:c.*537G>A	ENSP00000451435.1:n.*537G>A
ENST00000554638.5:n.1389G>A
ENST00000555020.5:n.1706G>A
ENST00000555754.1:n.365G>A
ENST00000556278.1:c.432+966G>A	ENSP00000451792.1:n.432+966G>A
ENST00000557706.5:n.1492G>A
NM_000155.3:c.917G>A	NP_000146.2:p.Gly306Glu
NM_001258332.1:c.590G>A	NP_001245261.1:p.Gly197Glu
NM_000155.4:c.917G>A MANE Select	NP_000146.2:p.Gly306Glu
NM_001258332.2:c.590G>A	NP_001245261.1:p.Gly197Glu