Canonical Allele Identifier: CA373284338
Gene: GALT HGNC NCBI

Linked Data

gnomAD v4: 9-34649038-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649038C>G , CM000671.2:g.34649038C>G GRCh38
NC_000009.11:g.34649035C>G , CM000671.1:g.34649035C>G GRCh37
NC_000009.10:g.34639035C>G NCBI36
NG_009029.1:g.7401C>G
NG_028966.1:g.1854C>G
NG_009029.2:g.7450C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*449C>G ENSP00000509954.1:n.*449C>G
ENST00000378842.8:c.861C>G MANE Select ENSP00000368119.4:p.Asp287Glu
ENST00000378842.7:c.861C>G ENSP00000368119.3:p.Asp287Glu
ENST00000450095.6:c.534C>G ENSP00000401956.2:p.Asp178Glu
ENST00000488412.2:n.117C>G
ENST00000489643.6:n.941C>G
ENST00000554550.5:c.*481C>G ENSP00000451435.1:n.*481C>G
ENST00000554638.5:n.1333C>G
ENST00000555020.5:n.1322C>G
ENST00000555086.5:n.968C>G
ENST00000555754.1:n.309C>G
ENST00000556278.1:c.432+582C>G ENSP00000451792.1:n.432+582C>G
ENST00000557706.5:n.1436C>G
NM_000155.3:c.861C>G NP_000146.2:p.Asp287Glu
NM_001258332.1:c.534C>G NP_001245261.1:p.Asp178Glu
NM_000155.4:c.861C>G MANE Select NP_000146.2:p.Asp287Glu
NM_001258332.2:c.534C>G NP_001245261.1:p.Asp178Glu