Canonical Allele Identifier: CA373281957

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648359T>A (hg19) ; chr9:g.34648362T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648362T>A , CM000671.2:g.34648362T>A	GRCh38
NC_000009.11:g.34648359T>A , CM000671.1:g.34648359T>A	GRCh37
NC_000009.10:g.34638359T>A	NCBI36
NG_009029.1:g.6725T>A
NG_028966.1:g.1178T>A
NG_009029.2:g.6774T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*181T>A	ENSP00000509954.1:n.*181T>A
ENST00000378842.8:c.593T>A MANE Select	ENSP00000368119.4:p.Ile198Asn
ENST00000378842.7:c.593T>A	ENSP00000368119.3:p.Ile198Asn
ENST00000450095.6:c.266T>A	ENSP00000401956.2:p.Ile89Asn
ENST00000472111.5:n.849T>A
ENST00000473506.6:c.*181T>A	ENSP00000432839.2:n.*181T>A
ENST00000473529.5:n.752T>A
ENST00000485531.1:n.1187T>A
ENST00000487381.5:n.978T>A
ENST00000489643.6:n.368T>A
ENST00000554085.5:c.*337T>A	ENSP00000450419.1:n.*337T>A
ENST00000554139.5:n.839T>A
ENST00000554550.5:c.*213T>A	ENSP00000451435.1:n.*213T>A
ENST00000554638.5:n.1065T>A
ENST00000554897.5:c.*280T>A	ENSP00000450942.1:n.*280T>A
ENST00000554944.5:n.942T>A
ENST00000555020.5:n.749T>A
ENST00000555086.5:n.597T>A
ENST00000555214.5:n.414T>A
ENST00000556244.1:c.580T>A
ENST00000556278.1:c.338T>A	ENSP00000451792.1:p.Ile113Asn
ENST00000556494.5:n.714T>A
ENST00000557706.5:n.1155T>A
NM_000155.3:c.593T>A	NP_000146.2:p.Ile198Asn
NM_001258332.1:c.266T>A	NP_001245261.1:p.Ile89Asn
NM_000155.4:c.593T>A MANE Select	NP_000146.2:p.Ile198Asn
NM_001258332.2:c.266T>A	NP_001245261.1:p.Ile89Asn