Canonical Allele Identifier: CA2841055804
Gene: GALT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34647987G>C , CM000671.2:g.34647987G>C GRCh38
NC_000009.11:g.34647984G>C , CM000671.1:g.34647984G>C GRCh37
NC_000009.10:g.34637984G>C NCBI36
NG_009029.1:g.6350G>C
NG_028966.1:g.803G>C
NG_009029.2:g.6399G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000691183.1:c.*95+26G>C ENSP00000509954.1:n.*95+26G>C
ENST00000378842.8:c.507+26G>C MANE Select ENSP00000368119.4:n.507+26G>C
ENST00000378842.7:c.507+26G>C ENSP00000368119.3:n.507+26G>C
ENST00000450095.6:c.180+26G>C ENSP00000401956.2:n.180+26G>C
ENST00000465543.6:n.846+26G>C
ENST00000472111.5:n.763+26G>C
ENST00000473506.6:c.*95+26G>C ENSP00000432839.2:n.*95+26G>C
ENST00000473529.5:n.643+26G>C
ENST00000485531.1:n.974G>C
ENST00000487381.5:n.892+26G>C
ENST00000489643.6:n.283-128G>C
ENST00000554085.5:c.*251+26G>C ENSP00000450419.1:n.*251+26G>C
ENST00000554139.5:n.686+26G>C
ENST00000554550.5:c.*127+26G>C ENSP00000451435.1:n.*127+26G>C
ENST00000554638.5:n.979+26G>C
ENST00000554897.5:c.*127+26G>C ENSP00000450942.1:n.*127+26G>C
ENST00000554944.5:n.729G>C
ENST00000555020.5:n.663+26G>C
ENST00000555086.5:n.511+26G>C
ENST00000555214.5:n.262-61G>C
ENST00000556244.1:c.494+26G>C
ENST00000556278.1:c.253-128G>C ENSP00000451792.1:n.253-128G>C
ENST00000556494.5:n.628+26G>C
ENST00000557706.5:n.1069+26G>C
NM_000155.3:c.507+26G>C NP_000146.2:n.507+26G>C
NM_001258332.1:c.180+26G>C NP_001245261.1:n.180+26G>C
NM_000155.4:c.507+26G>C MANE Select NP_000146.2:n.507+26G>C
NM_001258332.2:c.180+26G>C NP_001245261.1:n.180+26G>C