Canonical Allele Identifier: CA5036133

Gene: GALT

Linked Data

• ClinVar Variation Id: 2888964
• ClinVar RCV Id: RCV003610799
• dbSNP Id: rs777981871
• ExAC: 9:34647971 G / A
• gnomAD v2: 9-34647971-G-A
• gnomAD v3: 9-34647974-G-A
• gnomAD v4: 9-34647974-G-A
• MyVariant Identifiers: chr9:g.34647971G>A (hg19) ; chr9:g.34647974G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647974G>A , CM000671.2:g.34647974G>A	GRCh38
NC_000009.11:g.34647971G>A , CM000671.1:g.34647971G>A	GRCh37
NC_000009.10:g.34637971G>A	NCBI36
NG_009029.1:g.6337G>A
NG_028966.1:g.790G>A
NG_009029.2:g.6386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*95+13G>A	ENSP00000509954.1:n.*95+13G>A
ENST00000378842.8:c.507+13G>A MANE Select	ENSP00000368119.4:n.507+13G>A
ENST00000378842.7:c.507+13G>A	ENSP00000368119.3:n.507+13G>A
ENST00000450095.6:c.180+13G>A	ENSP00000401956.2:n.180+13G>A
ENST00000465543.6:n.846+13G>A
ENST00000472111.5:n.763+13G>A
ENST00000473506.6:c.*95+13G>A	ENSP00000432839.2:n.*95+13G>A
ENST00000473529.5:n.643+13G>A
ENST00000485531.1:n.961G>A
ENST00000487381.5:n.892+13G>A
ENST00000489643.6:n.283-141G>A
ENST00000554085.5:c.*251+13G>A	ENSP00000450419.1:n.*251+13G>A
ENST00000554139.5:n.686+13G>A
ENST00000554550.5:c.*127+13G>A	ENSP00000451435.1:n.*127+13G>A
ENST00000554638.5:n.979+13G>A
ENST00000554897.5:c.*127+13G>A	ENSP00000450942.1:n.*127+13G>A
ENST00000554944.5:n.716G>A
ENST00000555020.5:n.663+13G>A
ENST00000555086.5:n.511+13G>A
ENST00000555214.5:n.262-74G>A
ENST00000556244.1:c.494+13G>A
ENST00000556278.1:c.253-141G>A	ENSP00000451792.1:n.253-141G>A
ENST00000556494.5:n.628+13G>A
ENST00000557706.5:n.1069+13G>A
NM_000155.3:c.507+13G>A	NP_000146.2:n.507+13G>A
NM_001258332.1:c.180+13G>A	NP_001245261.1:n.180+13G>A
NM_000155.4:c.507+13G>A MANE Select	NP_000146.2:n.507+13G>A
NM_001258332.2:c.180+13G>A	NP_001245261.1:n.180+13G>A