Canonical Allele Identifier: CA464404370

Gene: GALT

Linked Data

• dbSNP Id: rs1821200942
• gnomAD v3: 9-34649501-C-G
• gnomAD v4: 9-34649501-C-G
• MyVariant Identifiers: chr9:g.34649498C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649501C>G , CM000671.2:g.34649501C>G	GRCh38
NC_000009.11:g.34649498C>G , CM000671.1:g.34649498C>G	GRCh37
NC_000009.10:g.34639498C>G	NCBI36
NG_009029.1:g.7864C>G
NG_028966.1:g.2317C>G
NG_009029.2:g.7913C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*584C>G	ENSP00000509954.1:n.*584C>G
ENST00000378842.8:c.996C>G MANE Select	ENSP00000368119.4:p.Val332=
ENST00000378842.7:c.996C>G	ENSP00000368119.3:p.Val332=
ENST00000450095.6:c.669C>G	ENSP00000401956.2:p.Val223=
ENST00000488412.2:n.580C>G
ENST00000489643.6:n.1404C>G
ENST00000554550.5:c.*616C>G	ENSP00000451435.1:n.*616C>G
ENST00000554638.5:n.1468C>G
ENST00000555020.5:n.1785C>G
ENST00000555754.1:n.444C>G
ENST00000556278.1:c.432+1045C>G	ENSP00000451792.1:n.432+1045C>G
ENST00000557706.5:n.1571C>G
NM_000155.3:c.996C>G	NP_000146.2:p.Val332=
NM_001258332.1:c.669C>G	NP_001245261.1:p.Val223=
NM_000155.4:c.996C>G MANE Select	NP_000146.2:p.Val332=
NM_001258332.2:c.669C>G	NP_001245261.1:p.Val223=