Canonical Allele Identifier: CA1845634753
Community Standard Title: NM_000155.4(GALT):c.41C= (p.Ala14=)
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34646745C= , CM000671.2:g.34646745C= GRCh38
NC_000009.11:g.34646742C= , CM000671.1:g.34646742C= GRCh37
NC_000009.10:g.34636742C= NCBI36
NG_009029.1:g.5108C=
NG_009029.2:g.5157C=

Transcript Alleles

HGVS Amino-acid Change
NM_000155.4:c.41C= MANE Select NP_000146.2:p.Ala14=
ENST00000378842.8:c.41C= MANE Select ENSP00000368119.4:p.Ala14=
NM_000155.3:c.41C= NP_000146.2:p.Ala14=
NM_001258332.1:c.-162C= NP_001245261.1:n.-162C=
NM_001258332.2:c.-162C= NP_001245261.1:n.-162C=
ENST00000378842.7:c.41C= ENSP00000368119.3:p.Ala14=
ENST00000450095.6:c.-162C= ENSP00000401956.2:n.-162C=
ENST00000465543.6:n.78C=
ENST00000468099.2:n.113C=
ENST00000472111.5:n.82C=
ENST00000473506.6:c.41C= ENSP00000432839.2:p.Ala14=
ENST00000473529.5:n.88C=
ENST00000487381.5:n.67C=
ENST00000489643.6:n.71C=
ENST00000554085.5:c.41C= ENSP00000450419.1:p.Ala14=
ENST00000554139.5:n.94C=
ENST00000554550.5:c.41C= ENSP00000451435.1:p.Ala14=
ENST00000554638.5:n.65C=
ENST00000554897.5:c.41C= ENSP00000450942.1:p.Ala14=
ENST00000554944.5:n.71C=
ENST00000555020.5:n.71C=
ENST00000555214.5:n.50C=
ENST00000556278.1:c.41C= ENSP00000451792.1:p.Ala14=
ENST00000557541.5:n.101C=
ENST00000605275.1:n.277C=
ENST00000691183.1:c.41C= ENSP00000509954.1:p.Ala14=