Canonical Allele Identifier: CA373284026
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648883C>G , CM000671.2:g.34648883C>G GRCh38
NC_000009.11:g.34648880C>G , CM000671.1:g.34648880C>G GRCh37
NC_000009.10:g.34638880C>G NCBI36
NG_009029.1:g.7246C>G
NG_028966.1:g.1699C>G
NG_009029.2:g.7295C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*397C>G ENSP00000509954.1:n.*397C>G
ENST00000378842.8:c.809C>G MANE Select ENSP00000368119.4:p.Ala270Gly
ENST00000378842.7:c.809C>G ENSP00000368119.3:p.Ala270Gly
ENST00000450095.6:c.482C>G ENSP00000401956.2:p.Ala161Gly
ENST00000473506.6:c.*397C>G ENSP00000432839.2:n.*397C>G
ENST00000489643.6:n.889C>G
ENST00000554085.5:c.*553C>G ENSP00000450419.1:n.*553C>G
ENST00000554550.5:c.*429C>G ENSP00000451435.1:n.*429C>G
ENST00000554638.5:n.1281C>G
ENST00000555020.5:n.1270C>G
ENST00000555086.5:n.813C>G
ENST00000555754.1:n.154C>G
ENST00000556244.1:c.796C>G
ENST00000556278.1:c.432+427C>G ENSP00000451792.1:n.432+427C>G
ENST00000557706.5:n.1371C>G
NM_000155.3:c.809C>G NP_000146.2:p.Ala270Gly
NM_001258332.1:c.482C>G NP_001245261.1:p.Ala161Gly
NM_000155.4:c.809C>G MANE Select NP_000146.2:p.Ala270Gly
NM_001258332.2:c.482C>G NP_001245261.1:p.Ala161Gly