Canonical Allele Identifier: CA1845641763
Community Standard Title: NM_000155.4(GALT):c.1057C= (p.Gln353=)
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649562C= , CM000671.2:g.34649562C= GRCh38
NC_000009.11:g.34649559C= , CM000671.1:g.34649559C= GRCh37
NC_000009.10:g.34639559C= NCBI36
NG_009029.1:g.7925C=
NG_028966.1:g.2378C=
NG_009029.2:g.7974C=

Transcript Alleles

HGVS Amino-acid Change
NM_000155.4:c.1057C= MANE Select NP_000146.2:p.Gln353=
ENST00000378842.8:c.1057C= MANE Select ENSP00000368119.4:p.Gln353=
NM_000155.3:c.1057C= NP_000146.2:p.Gln353=
NM_001258332.1:c.730C= NP_001245261.1:p.Gln244=
NM_001258332.2:c.730C= NP_001245261.1:p.Gln244=
ENST00000378842.7:c.1057C= ENSP00000368119.3:p.Gln353=
ENST00000450095.6:c.730C= ENSP00000401956.2:p.Gln244=
ENST00000488412.2:n.641C=
ENST00000489643.6:n.1465C=
ENST00000554550.5:c.*677C= ENSP00000451435.1:n.*677C=
ENST00000554638.5:n.1529C=
ENST00000555020.5:n.1846C=
ENST00000555754.1:n.505C=
ENST00000556278.1:c.432+1106C= ENSP00000451792.1:n.432+1106C=
ENST00000557706.5:n.1632C=
ENST00000691183.1:c.*645C= ENSP00000509954.1:n.*645C=