Canonical Allele Identifier: CA1845639550
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648765C= , CM000671.2:g.34648765C= GRCh38
NC_000009.11:g.34648762C= , CM000671.1:g.34648762C= GRCh37
NC_000009.10:g.34638762C= NCBI36
NG_009029.1:g.7128C=
NG_028966.1:g.1581C=
NG_009029.2:g.7177C=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*279C= ENSP00000509954.1:n.*279C=
ENST00000378842.8:c.691C= MANE Select ENSP00000368119.4:p.Arg231=
ENST00000378842.7:c.691C= ENSP00000368119.3:p.Arg231=
ENST00000450095.6:c.364C= ENSP00000401956.2:p.Arg122=
ENST00000473506.6:c.*279C= ENSP00000432839.2:n.*279C=
ENST00000473529.5:n.850C=
ENST00000487381.5:n.1381C=
ENST00000489643.6:n.771C=
ENST00000554085.5:c.*435C= ENSP00000450419.1:n.*435C=
ENST00000554550.5:c.*311C= ENSP00000451435.1:n.*311C=
ENST00000554638.5:n.1163C=
ENST00000555020.5:n.1152C=
ENST00000555086.5:n.695C=
ENST00000555754.1:n.36C=
ENST00000556244.1:c.678C=
ENST00000556278.1:c.432+309C= ENSP00000451792.1:n.432+309C=
ENST00000557706.5:n.1253C=
NM_000155.3:c.691C= NP_000146.2:p.Arg231=
NM_001258332.1:c.364C= NP_001245261.1:p.Arg122=
NM_000155.4:c.691C= MANE Select NP_000146.2:p.Arg231=
NM_001258332.2:c.364C= NP_001245261.1:p.Arg122=