Canonical Allele Identifier: CA2689809485

Gene: GALT

Linked Data

• ClinVar Variation Id: 2865362
• ClinVar RCV Id: RCV003609144
• gnomAD v4: 9-34648755-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648755T>G , CM000671.2:g.34648755T>G	GRCh38
NC_000009.11:g.34648752T>G , CM000671.1:g.34648752T>G	GRCh37
NC_000009.10:g.34638752T>G	NCBI36
NG_009029.1:g.7118T>G
NG_028966.1:g.1571T>G
NG_009029.2:g.7167T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*276-7T>G	ENSP00000509954.1:n.*276-7T>G
ENST00000378842.8:c.688-7T>G MANE Select	ENSP00000368119.4:n.688-7T>G
ENST00000378842.7:c.688-7T>G	ENSP00000368119.3:n.688-7T>G
ENST00000450095.6:c.361-7T>G	ENSP00000401956.2:n.361-7T>G
ENST00000473506.6:c.*276-7T>G	ENSP00000432839.2:n.*276-7T>G
ENST00000473529.5:n.847-7T>G
ENST00000487381.5:n.1371T>G
ENST00000489643.6:n.761T>G
ENST00000554085.5:c.*432-7T>G	ENSP00000450419.1:n.*432-7T>G
ENST00000554550.5:c.*308-7T>G	ENSP00000451435.1:n.*308-7T>G
ENST00000554638.5:n.1160-7T>G
ENST00000555020.5:n.1142T>G
ENST00000555086.5:n.692-7T>G
ENST00000555754.1:n.33-7T>G
ENST00000556244.1:c.675-7T>G
ENST00000556278.1:c.432+299T>G	ENSP00000451792.1:n.432+299T>G
ENST00000557706.5:n.1250-7T>G
NM_000155.3:c.688-7T>G	NP_000146.2:n.688-7T>G
NM_001258332.1:c.361-7T>G	NP_001245261.1:n.361-7T>G
NM_000155.4:c.688-7T>G MANE Select	NP_000146.2:n.688-7T>G
NM_001258332.2:c.361-7T>G	NP_001245261.1:n.361-7T>G