Canonical Allele Identifier: CA373283909

Gene: GALT

Linked Data

• gnomAD v4: 9-34648852-C-G
• MyVariant Identifiers: chr9:g.34648849C>G (hg19) ; chr9:g.34648852C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648852C>G , CM000671.2:g.34648852C>G	GRCh38
NC_000009.11:g.34648849C>G , CM000671.1:g.34648849C>G	GRCh37
NC_000009.10:g.34638849C>G	NCBI36
NG_009029.1:g.7215C>G
NG_028966.1:g.1668C>G
NG_009029.2:g.7264C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*366C>G	ENSP00000509954.1:n.*366C>G
ENST00000378842.8:c.778C>G MANE Select	ENSP00000368119.4:p.His260Asp
ENST00000378842.7:c.778C>G	ENSP00000368119.3:p.His260Asp
ENST00000450095.6:c.451C>G	ENSP00000401956.2:p.His151Asp
ENST00000473506.6:c.*366C>G	ENSP00000432839.2:n.*366C>G
ENST00000489643.6:n.858C>G
ENST00000554085.5:c.*522C>G	ENSP00000450419.1:n.*522C>G
ENST00000554550.5:c.*398C>G	ENSP00000451435.1:n.*398C>G
ENST00000554638.5:n.1250C>G
ENST00000555020.5:n.1239C>G
ENST00000555086.5:n.782C>G
ENST00000555754.1:n.123C>G
ENST00000556244.1:c.765C>G
ENST00000556278.1:c.432+396C>G	ENSP00000451792.1:n.432+396C>G
ENST00000557706.5:n.1340C>G
NM_000155.3:c.778C>G	NP_000146.2:p.His260Asp
NM_001258332.1:c.451C>G	NP_001245261.1:p.His151Asp
NM_000155.4:c.778C>G MANE Select	NP_000146.2:p.His260Asp
NM_001258332.2:c.451C>G	NP_001245261.1:p.His151Asp