Canonical Allele Identifier: CA373280336

Gene: GALT

Linked Data

• ClinVar Variation Id: 554776
• ClinVar RCV Id: RCV000670466 ; RCV003479195
• dbSNP Id: rs1554709252
• gnomAD v4: 9-34647674-C-A
• MyVariant Identifiers: chr9:g.34647671C>A (hg19) ; chr9:g.34647674C>A (hg38)
• PubMed: PMID:20547145

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647674C>A , CM000671.2:g.34647674C>A	GRCh38
NC_000009.11:g.34647671C>A , CM000671.1:g.34647671C>A	GRCh37
NC_000009.10:g.34637671C>A	NCBI36
NG_009029.1:g.6037C>A
NG_028966.1:g.490C>A
NG_009029.2:g.6086C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+107C>A	ENSP00000509954.1:n.328+107C>A
ENST00000378842.8:c.346C>A MANE Select	ENSP00000368119.4:p.Leu116Ile
ENST00000378842.7:c.346C>A	ENSP00000368119.3:p.Leu116Ile
ENST00000450095.6:c.51-158C>A	ENSP00000401956.2:n.51-158C>A
ENST00000465543.6:n.685C>A
ENST00000472111.5:n.476C>A
ENST00000473506.6:c.297C>A	ENSP00000432839.2:p.Pro99=
ENST00000473529.5:n.482C>A
ENST00000485531.1:n.661C>A
ENST00000487381.5:n.605C>A
ENST00000489643.6:n.282+416C>A
ENST00000554085.5:c.*90C>A	ENSP00000450419.1:n.*90C>A
ENST00000554139.5:n.399C>A
ENST00000554330.5:n.383C>A
ENST00000554550.5:c.253-158C>A	ENSP00000451435.1:n.253-158C>A
ENST00000554638.5:n.692C>A
ENST00000554897.5:c.253-158C>A	ENSP00000450942.1:n.253-158C>A
ENST00000554944.5:n.416C>A
ENST00000555020.5:n.376C>A
ENST00000555086.5:n.350C>A
ENST00000555214.5:n.262-374C>A
ENST00000556157.1:n.470C>A
ENST00000556244.1:c.333C>A
ENST00000556278.1:c.252+416C>A	ENSP00000451792.1:n.252+416C>A
ENST00000556403.5:n.448C>A
ENST00000556494.5:n.467C>A
ENST00000557541.5:n.490C>A
ENST00000557706.5:n.782C>A
NM_000155.3:c.346C>A	NP_000146.2:p.Leu116Ile
NM_001258332.1:c.51-158C>A	NP_001245261.1:n.51-158C>A
NM_000155.4:c.346C>A MANE Select	NP_000146.2:p.Leu116Ile
NM_001258332.2:c.51-158C>A	NP_001245261.1:n.51-158C>A