Canonical Allele Identifier: CA2689808642
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34647711-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647711T>G , CM000671.2:g.34647711T>G GRCh38
NC_000009.11:g.34647708T>G , CM000671.1:g.34647708T>G GRCh37
NC_000009.10:g.34637708T>G NCBI36
NG_009029.1:g.6074T>G
NG_028966.1:g.527T>G
NG_009029.2:g.6123T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.329-121T>G ENSP00000509954.1:n.329-121T>G
ENST00000378842.8:c.377+6T>G MANE Select ENSP00000368119.4:n.377+6T>G
ENST00000378842.7:c.377+6T>G ENSP00000368119.3:n.377+6T>G
ENST00000450095.6:c.51-121T>G ENSP00000401956.2:n.51-121T>G
ENST00000465543.6:n.716+6T>G
ENST00000472111.5:n.513T>G
ENST00000473506.6:c.328+6T>G ENSP00000432839.2:n.328+6T>G
ENST00000473529.5:n.513+6T>G
ENST00000485531.1:n.698T>G
ENST00000487381.5:n.642T>G
ENST00000489643.6:n.283-404T>G
ENST00000554085.5:c.*121+6T>G ENSP00000450419.1:n.*121+6T>G
ENST00000554139.5:n.436T>G
ENST00000554330.5:n.420T>G
ENST00000554550.5:c.253-121T>G ENSP00000451435.1:n.253-121T>G
ENST00000554638.5:n.729T>G
ENST00000554897.5:c.253-121T>G ENSP00000450942.1:n.253-121T>G
ENST00000554944.5:n.453T>G
ENST00000555020.5:n.413T>G
ENST00000555086.5:n.381+6T>G
ENST00000555214.5:n.262-337T>G
ENST00000556157.1:n.507T>G
ENST00000556244.1:c.364+6T>G
ENST00000556278.1:c.253-404T>G ENSP00000451792.1:n.253-404T>G
ENST00000556403.5:n.485T>G
ENST00000556494.5:n.498+6T>G
ENST00000557541.5:n.521+6T>G
ENST00000557706.5:n.819T>G
NM_000155.3:c.377+6T>G NP_000146.2:n.377+6T>G
NM_001258332.1:c.51-121T>G NP_001245261.1:n.51-121T>G
NM_000155.4:c.377+6T>G MANE Select NP_000146.2:n.377+6T>G
NM_001258332.2:c.51-121T>G NP_001245261.1:n.51-121T>G