Canonical Allele Identifier: CA1123157725

Gene: GALT

Linked Data

• dbSNP Id: rs1821194751
• gnomAD v3: 9-34649359-G-A
• gnomAD v4: 9-34649359-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649359G>A , CM000671.2:g.34649359G>A	GRCh38
NC_000009.11:g.34649356G>A , CM000671.1:g.34649356G>A	GRCh37
NC_000009.10:g.34639356G>A	NCBI36
NG_009029.1:g.7722G>A
NG_028966.1:g.2175G>A
NG_009029.2:g.7771G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*493-51G>A	ENSP00000509954.1:n.*493-51G>A
ENST00000378842.8:c.905-51G>A MANE Select	ENSP00000368119.4:n.905-51G>A
ENST00000378842.7:c.905-51G>A	ENSP00000368119.3:n.905-51G>A
ENST00000450095.6:c.578-51G>A	ENSP00000401956.2:n.578-51G>A
ENST00000488412.2:n.438G>A
ENST00000489643.6:n.1262G>A
ENST00000554550.5:c.*525-51G>A	ENSP00000451435.1:n.*525-51G>A
ENST00000554638.5:n.1377-51G>A
ENST00000555020.5:n.1643G>A
ENST00000555754.1:n.353-51G>A
ENST00000556278.1:c.432+903G>A	ENSP00000451792.1:n.432+903G>A
ENST00000557706.5:n.1480-51G>A
NM_000155.3:c.905-51G>A	NP_000146.2:n.905-51G>A
NM_001258332.1:c.578-51G>A	NP_001245261.1:n.578-51G>A
NM_000155.4:c.905-51G>A MANE Select	NP_000146.2:n.905-51G>A
NM_001258332.2:c.578-51G>A	NP_001245261.1:n.578-51G>A