Canonical Allele Identifier: CA1845640618
Community Standard Title: NM_000155.4(GALT):c.899G= (p.Trp300=)
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649076G= , CM000671.2:g.34649076G= GRCh38
NC_000009.11:g.34649073G= , CM000671.1:g.34649073G= GRCh37
NC_000009.10:g.34639073G= NCBI36
NG_009029.1:g.7439G=
NG_028966.1:g.1892G=
NG_009029.2:g.7488G=

Transcript Alleles

HGVS Amino-acid Change
NM_000155.4:c.899G= MANE Select NP_000146.2:p.Trp300=
ENST00000378842.8:c.899G= MANE Select ENSP00000368119.4:p.Trp300=
NM_000155.3:c.899G= NP_000146.2:p.Trp300=
NM_001258332.1:c.572G= NP_001245261.1:p.Trp191=
NM_001258332.2:c.572G= NP_001245261.1:p.Trp191=
ENST00000378842.7:c.899G= ENSP00000368119.3:p.Trp300=
ENST00000450095.6:c.572G= ENSP00000401956.2:p.Trp191=
ENST00000488412.2:n.155G=
ENST00000489643.6:n.979G=
ENST00000554550.5:c.*519G= ENSP00000451435.1:n.*519G=
ENST00000554638.5:n.1371G=
ENST00000555020.5:n.1360G=
ENST00000555086.5:n.1006G=
ENST00000555754.1:n.347G=
ENST00000556278.1:c.432+620G= ENSP00000451792.1:n.432+620G=
ENST00000557706.5:n.1474G=
ENST00000691183.1:c.*487G= ENSP00000509954.1:n.*487G=