Canonical Allele Identifier: CA2579371456

Gene: GALT

Linked Data

• ClinVar Variation Id: 2902067
• ClinVar RCV Id: RCV003609639
• gnomAD v4: 9-34649390-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649390G>A , CM000671.2:g.34649390G>A	GRCh38
NC_000009.11:g.34649387G>A , CM000671.1:g.34649387G>A	GRCh37
NC_000009.10:g.34639387G>A	NCBI36
NG_009029.1:g.7753G>A
NG_028966.1:g.2206G>A
NG_009029.2:g.7802G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*493-20G>A	ENSP00000509954.1:n.*493-20G>A
ENST00000378842.8:c.905-20G>A MANE Select	ENSP00000368119.4:n.905-20G>A
ENST00000378842.7:c.905-20G>A	ENSP00000368119.3:n.905-20G>A
ENST00000450095.6:c.578-20G>A	ENSP00000401956.2:n.578-20G>A
ENST00000488412.2:n.469G>A
ENST00000489643.6:n.1293G>A
ENST00000554550.5:c.*525-20G>A	ENSP00000451435.1:n.*525-20G>A
ENST00000554638.5:n.1377-20G>A
ENST00000555020.5:n.1674G>A
ENST00000555754.1:n.353-20G>A
ENST00000556278.1:c.432+934G>A	ENSP00000451792.1:n.432+934G>A
ENST00000557706.5:n.1480-20G>A
NM_000155.3:c.905-20G>A	NP_000146.2:n.905-20G>A
NM_001258332.1:c.578-20G>A	NP_001245261.1:n.578-20G>A
NM_000155.4:c.905-20G>A MANE Select	NP_000146.2:n.905-20G>A
NM_001258332.2:c.578-20G>A	NP_001245261.1:n.578-20G>A