Canonical Allele Identifier: CA1845641153
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649450T= , CM000671.2:g.34649450T= GRCh38
NC_000009.11:g.34649447T= , CM000671.1:g.34649447T= GRCh37
NC_000009.10:g.34639447T= NCBI36
NG_009029.1:g.7813T=
NG_028966.1:g.2266T=
NG_009029.2:g.7862T=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*533T= ENSP00000509954.1:n.*533T=
ENST00000378842.8:c.945T= MANE Select ENSP00000368119.4:p.His315=
ENST00000378842.7:c.945T= ENSP00000368119.3:p.His315=
ENST00000450095.6:c.618T= ENSP00000401956.2:p.His206=
ENST00000488412.2:n.529T=
ENST00000489643.6:n.1353T=
ENST00000554550.5:c.*565T= ENSP00000451435.1:n.*565T=
ENST00000554638.5:n.1417T=
ENST00000555020.5:n.1734T=
ENST00000555754.1:n.393T=
ENST00000556278.1:c.432+994T= ENSP00000451792.1:n.432+994T=
ENST00000557706.5:n.1520T=
NM_000155.3:c.945T= NP_000146.2:p.His315=
NM_001258332.1:c.618T= NP_001245261.1:p.His206=
NM_000155.4:c.945T= MANE Select NP_000146.2:p.His315=
NM_001258332.2:c.618T= NP_001245261.1:p.His206=