Canonical Allele Identifier: CA1845641194
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649456G= , CM000671.2:g.34649456G= GRCh38
NC_000009.11:g.34649453G= , CM000671.1:g.34649453G= GRCh37
NC_000009.10:g.34639453G= NCBI36
NG_009029.1:g.7819G=
NG_028966.1:g.2272G=
NG_009029.2:g.7868G=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*539G= ENSP00000509954.1:n.*539G=
ENST00000378842.8:c.951G= MANE Select ENSP00000368119.4:p.Gln317=
ENST00000378842.7:c.951G= ENSP00000368119.3:p.Gln317=
ENST00000450095.6:c.624G= ENSP00000401956.2:p.Gln208=
ENST00000488412.2:n.535G=
ENST00000489643.6:n.1359G=
ENST00000554550.5:c.*571G= ENSP00000451435.1:n.*571G=
ENST00000554638.5:n.1423G=
ENST00000555020.5:n.1740G=
ENST00000555754.1:n.399G=
ENST00000556278.1:c.432+1000G= ENSP00000451792.1:n.432+1000G=
ENST00000557706.5:n.1526G=
NM_000155.3:c.951G= NP_000146.2:p.Gln317=
NM_001258332.1:c.624G= NP_001245261.1:p.Gln208=
NM_000155.4:c.951G= MANE Select NP_000146.2:p.Gln317=
NM_001258332.2:c.624G= NP_001245261.1:p.Gln208=