Canonical Allele Identifier: CA1845638114
Community Standard Title: NM_000155.4(GALT):c.547C= (p.Pro183=)
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648154C= , CM000671.2:g.34648154C= GRCh38
NC_000009.11:g.34648151C= , CM000671.1:g.34648151C= GRCh37
NC_000009.10:g.34638151C= NCBI36
NG_009029.1:g.6517C=
NG_028966.1:g.970C=
NG_009029.2:g.6566C=

Transcript Alleles

HGVS Amino-acid Change
NM_000155.4:c.547C= MANE Select NP_000146.2:p.Pro183=
ENST00000378842.8:c.547C= MANE Select ENSP00000368119.4:p.Pro183=
NM_000155.3:c.547C= NP_000146.2:p.Pro183=
NM_001258332.1:c.220C= NP_001245261.1:p.Pro74=
NM_001258332.2:c.220C= NP_001245261.1:p.Pro74=
ENST00000378842.7:c.547C= ENSP00000368119.3:p.Pro183=
ENST00000450095.6:c.220C= ENSP00000401956.2:p.Pro74=
ENST00000465543.6:n.886C=
ENST00000472111.5:n.803C=
ENST00000473506.6:c.*135C= ENSP00000432839.2:n.*135C=
ENST00000473529.5:n.706C=
ENST00000485531.1:n.1141C=
ENST00000487381.5:n.932C=
ENST00000489643.6:n.322C=
ENST00000554085.5:c.*291C= ENSP00000450419.1:n.*291C=
ENST00000554139.5:n.793C=
ENST00000554550.5:c.*167C= ENSP00000451435.1:n.*167C=
ENST00000554638.5:n.1019C=
ENST00000554897.5:c.*234C= ENSP00000450942.1:n.*234C=
ENST00000554944.5:n.896C=
ENST00000555020.5:n.703C=
ENST00000555086.5:n.551C=
ENST00000555214.5:n.368C=
ENST00000556244.1:c.534C=
ENST00000556278.1:c.292C= ENSP00000451792.1:p.Pro98=
ENST00000556494.5:n.668C=
ENST00000557706.5:n.1109C=
ENST00000691183.1:c.*135C= ENSP00000509954.1:n.*135C=