Canonical Allele Identifier: CA2689810260
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34649108-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649108A>G , CM000671.2:g.34649108A>G GRCh38
NC_000009.11:g.34649105A>G , CM000671.1:g.34649105A>G GRCh37
NC_000009.10:g.34639105A>G NCBI36
NG_009029.1:g.7471A>G
NG_028966.1:g.1924A>G
NG_009029.2:g.7520A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*492+27A>G ENSP00000509954.1:n.*492+27A>G
ENST00000378842.8:c.904+27A>G MANE Select ENSP00000368119.4:n.904+27A>G
ENST00000378842.7:c.904+27A>G ENSP00000368119.3:n.904+27A>G
ENST00000450095.6:c.577+27A>G ENSP00000401956.2:n.577+27A>G
ENST00000488412.2:n.187A>G
ENST00000489643.6:n.1011A>G
ENST00000554550.5:c.*524+27A>G ENSP00000451435.1:n.*524+27A>G
ENST00000554638.5:n.1376+27A>G
ENST00000555020.5:n.1392A>G
ENST00000555086.5:n.1038A>G
ENST00000555754.1:n.352+27A>G
ENST00000556278.1:c.432+652A>G ENSP00000451792.1:n.432+652A>G
ENST00000557706.5:n.1479+27A>G
NM_000155.3:c.904+27A>G NP_000146.2:n.904+27A>G
NM_001258332.1:c.577+27A>G NP_001245261.1:n.577+27A>G
NM_000155.4:c.904+27A>G MANE Select NP_000146.2:n.904+27A>G
NM_001258332.2:c.577+27A>G NP_001245261.1:n.577+27A>G