Canonical Allele Identifier: CA373280650

Gene: GALT

Linked Data

• ClinVar Variation Id: 1502471
• ClinVar RCV Id: RCV002022361
• dbSNP Id: rs2132343082
• MyVariant Identifiers: chr9:g.34647854T>G (hg19) ; chr9:g.34647857T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647857T>G , CM000671.2:g.34647857T>G	GRCh38
NC_000009.11:g.34647854T>G , CM000671.1:g.34647854T>G	GRCh37
NC_000009.10:g.34637854T>G	NCBI36
NG_009029.1:g.6220T>G
NG_028966.1:g.673T>G
NG_009029.2:g.6269T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.354T>G	ENSP00000509954.1:p.Gly118=
ENST00000378842.8:c.403T>G MANE Select	ENSP00000368119.4:p.Ser135Ala
ENST00000378842.7:c.403T>G	ENSP00000368119.3:p.Ser135Ala
ENST00000450095.6:c.76T>G	ENSP00000401956.2:p.Ser26Ala
ENST00000465543.6:n.742T>G
ENST00000472111.5:n.659T>G
ENST00000473506.6:c.354T>G	ENSP00000432839.2:p.Gly118=
ENST00000473529.5:n.539T>G
ENST00000485531.1:n.844T>G
ENST00000487381.5:n.788T>G
ENST00000489643.6:n.283-258T>G
ENST00000554085.5:c.*147T>G	ENSP00000450419.1:n.*147T>G
ENST00000554139.5:n.582T>G
ENST00000554550.5:c.*23T>G	ENSP00000451435.1:n.*23T>G
ENST00000554638.5:n.875T>G
ENST00000554897.5:c.*23T>G	ENSP00000450942.1:n.*23T>G
ENST00000554944.5:n.599T>G
ENST00000555020.5:n.559T>G
ENST00000555086.5:n.407T>G
ENST00000555214.5:n.262-191T>G
ENST00000556244.1:c.390T>G
ENST00000556278.1:c.253-258T>G	ENSP00000451792.1:n.253-258T>G
ENST00000556494.5:n.524T>G
ENST00000557541.5:n.547T>G
ENST00000557706.5:n.965T>G
NM_000155.3:c.403T>G	NP_000146.2:p.Ser135Ala
NM_001258332.1:c.76T>G	NP_001245261.1:p.Ser26Ala
NM_000155.4:c.403T>G MANE Select	NP_000146.2:p.Ser135Ala
NM_001258332.2:c.76T>G	NP_001245261.1:p.Ser26Ala