Canonical Allele Identifier: CA1845638167
Community Standard Title: NM_000155.4(GALT):c.556C= (p.His186=)
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648163C= , CM000671.2:g.34648163C= GRCh38
NC_000009.11:g.34648160C= , CM000671.1:g.34648160C= GRCh37
NC_000009.10:g.34638160C= NCBI36
NG_009029.1:g.6526C=
NG_028966.1:g.979C=
NG_009029.2:g.6575C=

Transcript Alleles

HGVS Amino-acid Change
NM_000155.4:c.556C= MANE Select NP_000146.2:p.His186=
ENST00000378842.8:c.556C= MANE Select ENSP00000368119.4:p.His186=
NM_000155.3:c.556C= NP_000146.2:p.His186=
NM_001258332.1:c.229C= NP_001245261.1:p.His77=
NM_001258332.2:c.229C= NP_001245261.1:p.His77=
ENST00000378842.7:c.556C= ENSP00000368119.3:p.His186=
ENST00000450095.6:c.229C= ENSP00000401956.2:p.His77=
ENST00000465543.6:n.895C=
ENST00000472111.5:n.812C=
ENST00000473506.6:c.*144C= ENSP00000432839.2:n.*144C=
ENST00000473529.5:n.715C=
ENST00000485531.1:n.1150C=
ENST00000487381.5:n.941C=
ENST00000489643.6:n.331C=
ENST00000554085.5:c.*300C= ENSP00000450419.1:n.*300C=
ENST00000554139.5:n.802C=
ENST00000554550.5:c.*176C= ENSP00000451435.1:n.*176C=
ENST00000554638.5:n.1028C=
ENST00000554897.5:c.*243C= ENSP00000450942.1:n.*243C=
ENST00000554944.5:n.905C=
ENST00000555020.5:n.712C=
ENST00000555086.5:n.560C=
ENST00000555214.5:n.377C=
ENST00000556244.1:c.543C=
ENST00000556278.1:c.301C= ENSP00000451792.1:p.His101=
ENST00000556494.5:n.677C=
ENST00000557706.5:n.1118C=
ENST00000691183.1:c.*144C= ENSP00000509954.1:n.*144C=