Canonical Allele Identifier: CA373283907
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34648852C>A , CM000671.2:g.34648852C>A GRCh38
NC_000009.11:g.34648849C>A , CM000671.1:g.34648849C>A GRCh37
NC_000009.10:g.34638849C>A NCBI36
NG_009029.1:g.7215C>A
NG_028966.1:g.1668C>A
NG_009029.2:g.7264C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*366C>A ENSP00000509954.1:n.*366C>A
ENST00000378842.8:c.778C>A MANE Select ENSP00000368119.4:p.His260Asn
ENST00000378842.7:c.778C>A ENSP00000368119.3:p.His260Asn
ENST00000450095.6:c.451C>A ENSP00000401956.2:p.His151Asn
ENST00000473506.6:c.*366C>A ENSP00000432839.2:n.*366C>A
ENST00000489643.6:n.858C>A
ENST00000554085.5:c.*522C>A ENSP00000450419.1:n.*522C>A
ENST00000554550.5:c.*398C>A ENSP00000451435.1:n.*398C>A
ENST00000554638.5:n.1250C>A
ENST00000555020.5:n.1239C>A
ENST00000555086.5:n.782C>A
ENST00000555754.1:n.123C>A
ENST00000556244.1:c.765C>A
ENST00000556278.1:c.432+396C>A ENSP00000451792.1:n.432+396C>A
ENST00000557706.5:n.1340C>A
NM_000155.3:c.778C>A NP_000146.2:p.His260Asn
NM_001258332.1:c.451C>A NP_001245261.1:p.His151Asn
NM_000155.4:c.778C>A MANE Select NP_000146.2:p.His260Asn
NM_001258332.2:c.451C>A NP_001245261.1:p.His151Asn