Canonical Allele Identifier: CA373283847

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648829C>G (hg19) ; chr9:g.34648832C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648832C>G , CM000671.2:g.34648832C>G	GRCh38
NC_000009.11:g.34648829C>G , CM000671.1:g.34648829C>G	GRCh37
NC_000009.10:g.34638829C>G	NCBI36
NG_009029.1:g.7195C>G
NG_028966.1:g.1648C>G
NG_009029.2:g.7244C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*346C>G	ENSP00000509954.1:n.*346C>G
ENST00000378842.8:c.758C>G MANE Select	ENSP00000368119.4:p.Thr253Arg
ENST00000378842.7:c.758C>G	ENSP00000368119.3:p.Thr253Arg
ENST00000450095.6:c.431C>G	ENSP00000401956.2:p.Thr144Arg
ENST00000473506.6:c.*346C>G	ENSP00000432839.2:n.*346C>G
ENST00000489643.6:n.838C>G
ENST00000554085.5:c.*502C>G	ENSP00000450419.1:n.*502C>G
ENST00000554550.5:c.*378C>G	ENSP00000451435.1:n.*378C>G
ENST00000554638.5:n.1230C>G
ENST00000555020.5:n.1219C>G
ENST00000555086.5:n.762C>G
ENST00000555754.1:n.103C>G
ENST00000556244.1:c.745C>G
ENST00000556278.1:c.432+376C>G	ENSP00000451792.1:n.432+376C>G
ENST00000557706.5:n.1320C>G
NM_000155.3:c.758C>G	NP_000146.2:p.Thr253Arg
NM_001258332.1:c.431C>G	NP_001245261.1:p.Thr144Arg
NM_000155.4:c.758C>G MANE Select	NP_000146.2:p.Thr253Arg
NM_001258332.2:c.431C>G	NP_001245261.1:p.Thr144Arg