Canonical Allele Identifier: CA2689808725
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34648293-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648293A>G , CM000671.2:g.34648293A>G GRCh38
NC_000009.11:g.34648290A>G , CM000671.1:g.34648290A>G GRCh37
NC_000009.10:g.34638290A>G NCBI36
NG_009029.1:g.6656A>G
NG_028966.1:g.1109A>G
NG_009029.2:g.6705A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*153-41A>G ENSP00000509954.1:n.*153-41A>G
ENST00000378842.8:c.565-41A>G MANE Select ENSP00000368119.4:n.565-41A>G
ENST00000378842.7:c.565-41A>G ENSP00000368119.3:n.565-41A>G
ENST00000450095.6:c.238-41A>G ENSP00000401956.2:n.238-41A>G
ENST00000472111.5:n.821-41A>G
ENST00000473506.6:c.*153-41A>G ENSP00000432839.2:n.*153-41A>G
ENST00000473529.5:n.724-41A>G
ENST00000485531.1:n.1159-41A>G
ENST00000487381.5:n.950-41A>G
ENST00000489643.6:n.340-41A>G
ENST00000554085.5:c.*309-41A>G ENSP00000450419.1:n.*309-41A>G
ENST00000554139.5:n.811-41A>G
ENST00000554550.5:c.*185-41A>G ENSP00000451435.1:n.*185-41A>G
ENST00000554638.5:n.1037-41A>G
ENST00000554897.5:c.*252-41A>G ENSP00000450942.1:n.*252-41A>G
ENST00000554944.5:n.914-41A>G
ENST00000555020.5:n.721-41A>G
ENST00000555086.5:n.569-41A>G
ENST00000555214.5:n.386-41A>G
ENST00000556244.1:c.552-41A>G
ENST00000556278.1:c.310-41A>G ENSP00000451792.1:n.310-41A>G
ENST00000556494.5:n.686-41A>G
ENST00000557706.5:n.1127-41A>G
NM_000155.3:c.565-41A>G NP_000146.2:n.565-41A>G
NM_001258332.1:c.238-41A>G NP_001245261.1:n.238-41A>G
NM_000155.4:c.565-41A>G MANE Select NP_000146.2:n.565-41A>G
NM_001258332.2:c.238-41A>G NP_001245261.1:n.238-41A>G