Canonical Allele Identifier: CA1845641186
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649455A= , CM000671.2:g.34649455A= GRCh38
NC_000009.11:g.34649452A= , CM000671.1:g.34649452A= GRCh37
NC_000009.10:g.34639452A= NCBI36
NG_009029.1:g.7818A=
NG_028966.1:g.2271A=
NG_009029.2:g.7867A=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*538A= ENSP00000509954.1:n.*538A=
ENST00000378842.8:c.950A= MANE Select ENSP00000368119.4:p.Gln317=
ENST00000378842.7:c.950A= ENSP00000368119.3:p.Gln317=
ENST00000450095.6:c.623A= ENSP00000401956.2:p.Gln208=
ENST00000488412.2:n.534A=
ENST00000489643.6:n.1358A=
ENST00000554550.5:c.*570A= ENSP00000451435.1:n.*570A=
ENST00000554638.5:n.1422A=
ENST00000555020.5:n.1739A=
ENST00000555754.1:n.398A=
ENST00000556278.1:c.432+999A= ENSP00000451792.1:n.432+999A=
ENST00000557706.5:n.1525A=
NM_000155.3:c.950A= NP_000146.2:p.Gln317=
NM_001258332.1:c.623A= NP_001245261.1:p.Gln208=
NM_000155.4:c.950A= MANE Select NP_000146.2:p.Gln317=
NM_001258332.2:c.623A= NP_001245261.1:p.Gln208=