Canonical Allele Identifier: CA1845641129
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649442T= , CM000671.2:g.34649442T= GRCh38
NC_000009.11:g.34649439T= , CM000671.1:g.34649439T= GRCh37
NC_000009.10:g.34639439T= NCBI36
NG_009029.1:g.7805T=
NG_028966.1:g.2258T=
NG_009029.2:g.7854T=

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*525T= ENSP00000509954.1:n.*525T=
ENST00000378842.8:c.937T= MANE Select ENSP00000368119.4:p.Trp313=
ENST00000378842.7:c.937T= ENSP00000368119.3:p.Trp313=
ENST00000450095.6:c.610T= ENSP00000401956.2:p.Trp204=
ENST00000488412.2:n.521T=
ENST00000489643.6:n.1345T=
ENST00000554550.5:c.*557T= ENSP00000451435.1:n.*557T=
ENST00000554638.5:n.1409T=
ENST00000555020.5:n.1726T=
ENST00000555754.1:n.385T=
ENST00000556278.1:c.432+986T= ENSP00000451792.1:n.432+986T=
ENST00000557706.5:n.1512T=
NM_000155.3:c.937T= NP_000146.2:p.Trp313=
NM_001258332.1:c.610T= NP_001245261.1:p.Trp204=
NM_000155.4:c.937T= MANE Select NP_000146.2:p.Trp313=
NM_001258332.2:c.610T= NP_001245261.1:p.Trp204=