Canonical Allele Identifier: CA1845639724
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648828C= , CM000671.2:g.34648828C= GRCh38
NC_000009.11:g.34648825C= , CM000671.1:g.34648825C= GRCh37
NC_000009.10:g.34638825C= NCBI36
NG_009029.1:g.7191C=
NG_028966.1:g.1644C=
NG_009029.2:g.7240C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*342C= ENSP00000509954.1:n.*342C=
ENST00000378842.8:c.754C= MANE Select ENSP00000368119.4:p.Gln252=
ENST00000378842.7:c.754C= ENSP00000368119.3:p.Gln252=
ENST00000450095.6:c.427C= ENSP00000401956.2:p.Gln143=
ENST00000473506.6:c.*342C= ENSP00000432839.2:n.*342C=
ENST00000473529.5:n.913C=
ENST00000489643.6:n.834C=
ENST00000554085.5:c.*498C= ENSP00000450419.1:n.*498C=
ENST00000554550.5:c.*374C= ENSP00000451435.1:n.*374C=
ENST00000554638.5:n.1226C=
ENST00000555020.5:n.1215C=
ENST00000555086.5:n.758C=
ENST00000555754.1:n.99C=
ENST00000556244.1:c.741C=
ENST00000556278.1:c.432+372C= ENSP00000451792.1:n.432+372C=
ENST00000557706.5:n.1316C=
NM_000155.3:c.754C= NP_000146.2:p.Gln252=
NM_001258332.1:c.427C= NP_001245261.1:p.Gln143=
NM_000155.4:c.754C= MANE Select NP_000146.2:p.Gln252=
NM_001258332.2:c.427C= NP_001245261.1:p.Gln143=