Canonical Allele Identifier: CA373284002
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648877C>G , CM000671.2:g.34648877C>G GRCh38
NC_000009.11:g.34648874C>G , CM000671.1:g.34648874C>G GRCh37
NC_000009.10:g.34638874C>G NCBI36
NG_009029.1:g.7240C>G
NG_028966.1:g.1693C>G
NG_009029.2:g.7289C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*391C>G ENSP00000509954.1:n.*391C>G
ENST00000378842.8:c.803C>G MANE Select ENSP00000368119.4:p.Thr268Ser
ENST00000378842.7:c.803C>G ENSP00000368119.3:p.Thr268Ser
ENST00000450095.6:c.476C>G ENSP00000401956.2:p.Thr159Ser
ENST00000473506.6:c.*391C>G ENSP00000432839.2:n.*391C>G
ENST00000489643.6:n.883C>G
ENST00000554085.5:c.*547C>G ENSP00000450419.1:n.*547C>G
ENST00000554550.5:c.*423C>G ENSP00000451435.1:n.*423C>G
ENST00000554638.5:n.1275C>G
ENST00000555020.5:n.1264C>G
ENST00000555086.5:n.807C>G
ENST00000555754.1:n.148C>G
ENST00000556244.1:c.790C>G
ENST00000556278.1:c.432+421C>G ENSP00000451792.1:n.432+421C>G
ENST00000557706.5:n.1365C>G
NM_000155.3:c.803C>G NP_000146.2:p.Thr268Ser
NM_001258332.1:c.476C>G NP_001245261.1:p.Thr159Ser
NM_000155.4:c.803C>G MANE Select NP_000146.2:p.Thr268Ser
NM_001258332.2:c.476C>G NP_001245261.1:p.Thr159Ser