Canonical Allele Identifier: CA2689808673
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648008-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648008G>A , CM000671.2:g.34648008G>A GRCh38
NC_000009.11:g.34648005G>A , CM000671.1:g.34648005G>A GRCh37
NC_000009.10:g.34638005G>A NCBI36
NG_009029.1:g.6371G>A
NG_028966.1:g.824G>A
NG_009029.2:g.6420G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*95+47G>A ENSP00000509954.1:n.*95+47G>A
ENST00000378842.8:c.507+47G>A MANE Select ENSP00000368119.4:n.507+47G>A
ENST00000378842.7:c.507+47G>A ENSP00000368119.3:n.507+47G>A
ENST00000450095.6:c.180+47G>A ENSP00000401956.2:n.180+47G>A
ENST00000465543.6:n.846+47G>A
ENST00000472111.5:n.763+47G>A
ENST00000473506.6:c.*95+47G>A ENSP00000432839.2:n.*95+47G>A
ENST00000473529.5:n.643+47G>A
ENST00000485531.1:n.995G>A
ENST00000487381.5:n.892+47G>A
ENST00000489643.6:n.283-107G>A
ENST00000554085.5:c.*251+47G>A ENSP00000450419.1:n.*251+47G>A
ENST00000554139.5:n.687-40G>A
ENST00000554550.5:c.*127+47G>A ENSP00000451435.1:n.*127+47G>A
ENST00000554638.5:n.979+47G>A
ENST00000554897.5:c.*128-40G>A ENSP00000450942.1:n.*128-40G>A
ENST00000554944.5:n.750G>A
ENST00000555020.5:n.663+47G>A
ENST00000555086.5:n.511+47G>A
ENST00000555214.5:n.262-40G>A
ENST00000556244.1:c.494+47G>A
ENST00000556278.1:c.253-107G>A ENSP00000451792.1:n.253-107G>A
ENST00000556494.5:n.628+47G>A
ENST00000557706.5:n.1069+47G>A
NM_000155.3:c.507+47G>A NP_000146.2:n.507+47G>A
NM_001258332.1:c.180+47G>A NP_001245261.1:n.180+47G>A
NM_000155.4:c.507+47G>A MANE Select NP_000146.2:n.507+47G>A
NM_001258332.2:c.180+47G>A NP_001245261.1:n.180+47G>A