Canonical Allele Identifier: CA464403113

Gene: GALT

Linked Data

• ClinVar Variation Id: 1128013
• ClinVar RCV Id: RCV001460634
• dbSNP Id: rs1554709425
• gnomAD v4: 9-34648833-A-G
• MyVariant Identifiers: chr9:g.34648830A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648833A>G , CM000671.2:g.34648833A>G	GRCh38
NC_000009.11:g.34648830A>G , CM000671.1:g.34648830A>G	GRCh37
NC_000009.10:g.34638830A>G	NCBI36
NG_009029.1:g.7196A>G
NG_028966.1:g.1649A>G
NG_009029.2:g.7245A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*347A>G	ENSP00000509954.1:n.*347A>G
ENST00000378842.8:c.759A>G MANE Select	ENSP00000368119.4:p.Thr253=
ENST00000378842.7:c.759A>G	ENSP00000368119.3:p.Thr253=
ENST00000450095.6:c.432A>G	ENSP00000401956.2:p.Thr144=
ENST00000473506.6:c.*347A>G	ENSP00000432839.2:n.*347A>G
ENST00000489643.6:n.839A>G
ENST00000554085.5:c.*503A>G	ENSP00000450419.1:n.*503A>G
ENST00000554550.5:c.*379A>G	ENSP00000451435.1:n.*379A>G
ENST00000554638.5:n.1231A>G
ENST00000555020.5:n.1220A>G
ENST00000555086.5:n.763A>G
ENST00000555754.1:n.104A>G
ENST00000556244.1:c.746A>G
ENST00000556278.1:c.432+377A>G	ENSP00000451792.1:n.432+377A>G
ENST00000557706.5:n.1321A>G
NM_000155.3:c.759A>G	NP_000146.2:p.Thr253=
NM_001258332.1:c.432A>G	NP_001245261.1:p.Thr144=
NM_000155.4:c.759A>G MANE Select	NP_000146.2:p.Thr253=
NM_001258332.2:c.432A>G	NP_001245261.1:p.Thr144=