Canonical Allele Identifier: CA342593

Gene: GALT

Linked Data

• ClinVar Variation Id: 25192
• ClinVar RCV Id: RCV000022128 ; RCV001276267 ; RCV001711134
• dbSNP Id: rs2277202
• gnomAD v2: 9-34648020-G-A
• gnomAD v3: 9-34648023-G-A
• gnomAD v4: 9-34648023-G-A
• MyVariant Identifiers: chr9:g.34648020G>A (hg19) ; chr9:g.34648023G>A (hg38)
• PubMed: PMID:10649501 ; PMID:25473725

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648023G>A , CM000671.2:g.34648023G>A	GRCh38
NC_000009.11:g.34648020G>A , CM000671.1:g.34648020G>A	GRCh37
NC_000009.10:g.34638020G>A	NCBI36
NG_009029.1:g.6386G>A
NG_028966.1:g.839G>A
NG_009029.2:g.6435G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*95+62G>A	ENSP00000509954.1:n.*95+62G>A
ENST00000378842.8:c.507+62G>A MANE Select	ENSP00000368119.4:n.507+62G>A
ENST00000378842.7:c.507+62G>A	ENSP00000368119.3:n.507+62G>A
ENST00000450095.6:c.180+62G>A	ENSP00000401956.2:n.180+62G>A
ENST00000465543.6:n.846+62G>A
ENST00000472111.5:n.763+62G>A
ENST00000473506.6:c.*95+62G>A	ENSP00000432839.2:n.*95+62G>A
ENST00000473529.5:n.643+62G>A
ENST00000485531.1:n.1010G>A
ENST00000487381.5:n.892+62G>A
ENST00000489643.6:n.283-92G>A
ENST00000554085.5:c.*251+62G>A	ENSP00000450419.1:n.*251+62G>A
ENST00000554139.5:n.687-25G>A
ENST00000554550.5:c.*127+62G>A	ENSP00000451435.1:n.*127+62G>A
ENST00000554638.5:n.979+62G>A
ENST00000554897.5:c.*128-25G>A	ENSP00000450942.1:n.*128-25G>A
ENST00000554944.5:n.765G>A
ENST00000555020.5:n.663+62G>A
ENST00000555086.5:n.511+62G>A
ENST00000555214.5:n.262-25G>A
ENST00000556244.1:c.494+62G>A
ENST00000556278.1:c.253-92G>A	ENSP00000451792.1:n.253-92G>A
ENST00000556494.5:n.628+62G>A
ENST00000557706.5:n.1069+62G>A
NM_000155.3:c.507+62G>A	NP_000146.2:n.507+62G>A
NM_001258332.1:c.180+62G>A	NP_001245261.1:n.180+62G>A
NM_000155.4:c.507+62G>A MANE Select	NP_000146.2:n.507+62G>A
NM_001258332.2:c.180+62G>A	NP_001245261.1:n.180+62G>A