Canonical Allele Identifier: CA5036250

Gene: GALT

Linked Data

• dbSNP Id: rs764881678
• ExAC: 9:34649374 C / G
• gnomAD v2: 9-34649374-C-G
• gnomAD v3: 9-34649377-C-G
• gnomAD v4: 9-34649377-C-G
• MyVariant Identifiers: chr9:g.34649374C>G (hg19) ; chr9:g.34649377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649377C>G , CM000671.2:g.34649377C>G	GRCh38
NC_000009.11:g.34649374C>G , CM000671.1:g.34649374C>G	GRCh37
NC_000009.10:g.34639374C>G	NCBI36
NG_009029.1:g.7740C>G
NG_028966.1:g.2193C>G
NG_009029.2:g.7789C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*493-33C>G	ENSP00000509954.1:n.*493-33C>G
ENST00000378842.8:c.905-33C>G MANE Select	ENSP00000368119.4:n.905-33C>G
ENST00000378842.7:c.905-33C>G	ENSP00000368119.3:n.905-33C>G
ENST00000450095.6:c.578-33C>G	ENSP00000401956.2:n.578-33C>G
ENST00000488412.2:n.456C>G
ENST00000489643.6:n.1280C>G
ENST00000554550.5:c.*525-33C>G	ENSP00000451435.1:n.*525-33C>G
ENST00000554638.5:n.1377-33C>G
ENST00000555020.5:n.1661C>G
ENST00000555754.1:n.353-33C>G
ENST00000556278.1:c.432+921C>G	ENSP00000451792.1:n.432+921C>G
ENST00000557706.5:n.1480-33C>G
NM_000155.3:c.905-33C>G	NP_000146.2:n.905-33C>G
NM_001258332.1:c.578-33C>G	NP_001245261.1:n.578-33C>G
NM_000155.4:c.905-33C>G MANE Select	NP_000146.2:n.905-33C>G
NM_001258332.2:c.578-33C>G	NP_001245261.1:n.578-33C>G