Canonical Allele Identifier: CA373281610
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648153C>G , CM000671.2:g.34648153C>G GRCh38
NC_000009.11:g.34648150C>G , CM000671.1:g.34648150C>G GRCh37
NC_000009.10:g.34638150C>G NCBI36
NG_009029.1:g.6516C>G
NG_028966.1:g.969C>G
NG_009029.2:g.6565C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*134C>G ENSP00000509954.1:n.*134C>G
ENST00000378842.8:c.546C>G MANE Select ENSP00000368119.4:p.Asn182Lys
ENST00000378842.7:c.546C>G ENSP00000368119.3:p.Asn182Lys
ENST00000450095.6:c.219C>G ENSP00000401956.2:p.Asn73Lys
ENST00000465543.6:n.885C>G
ENST00000472111.5:n.802C>G
ENST00000473506.6:c.*134C>G ENSP00000432839.2:n.*134C>G
ENST00000473529.5:n.705C>G
ENST00000485531.1:n.1140C>G
ENST00000487381.5:n.931C>G
ENST00000489643.6:n.321C>G
ENST00000554085.5:c.*290C>G ENSP00000450419.1:n.*290C>G
ENST00000554139.5:n.792C>G
ENST00000554550.5:c.*166C>G ENSP00000451435.1:n.*166C>G
ENST00000554638.5:n.1018C>G
ENST00000554897.5:c.*233C>G ENSP00000450942.1:n.*233C>G
ENST00000554944.5:n.895C>G
ENST00000555020.5:n.702C>G
ENST00000555086.5:n.550C>G
ENST00000555214.5:n.367C>G
ENST00000556244.1:c.533C>G
ENST00000556278.1:c.291C>G ENSP00000451792.1:p.Asn97Lys
ENST00000556494.5:n.667C>G
ENST00000557706.5:n.1108C>G
NM_000155.3:c.546C>G NP_000146.2:p.Asn182Lys
NM_001258332.1:c.219C>G NP_001245261.1:p.Asn73Lys
NM_000155.4:c.546C>G MANE Select NP_000146.2:p.Asn182Lys
NM_001258332.2:c.219C>G NP_001245261.1:p.Asn73Lys