Canonical Allele Identifier: CA373285055
Gene: GALT HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.34649499G>A , CM000671.2:g.34649499G>A GRCh38
NC_000009.11:g.34649496G>A , CM000671.1:g.34649496G>A GRCh37
NC_000009.10:g.34639496G>A NCBI36
NG_009029.1:g.7862G>A
NG_028966.1:g.2315G>A
NG_009029.2:g.7911G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000691183.1:c.*582G>A ENSP00000509954.1:n.*582G>A
ENST00000378842.8:c.994G>A MANE Select ENSP00000368119.4:p.Val332Ile
ENST00000378842.7:c.994G>A ENSP00000368119.3:p.Val332Ile
ENST00000450095.6:c.667G>A ENSP00000401956.2:p.Val223Ile
ENST00000488412.2:n.578G>A
ENST00000489643.6:n.1402G>A
ENST00000554550.5:c.*614G>A ENSP00000451435.1:n.*614G>A
ENST00000554638.5:n.1466G>A
ENST00000555020.5:n.1783G>A
ENST00000555754.1:n.442G>A
ENST00000556278.1:c.432+1043G>A ENSP00000451792.1:n.432+1043G>A
ENST00000557706.5:n.1569G>A
NM_000155.3:c.994G>A NP_000146.2:p.Val332Ile
NM_001258332.1:c.667G>A NP_001245261.1:p.Val223Ile
NM_000155.4:c.994G>A MANE Select NP_000146.2:p.Val332Ile
NM_001258332.2:c.667G>A NP_001245261.1:p.Val223Ile