Canonical Allele Identifier: CA373282363

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648442C>A (hg19) ; chr9:g.34648445C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648445C>A , CM000671.2:g.34648445C>A	GRCh38
NC_000009.11:g.34648442C>A , CM000671.1:g.34648442C>A	GRCh37
NC_000009.10:g.34638442C>A	NCBI36
NG_009029.1:g.6808C>A
NG_028966.1:g.1261C>A
NG_009029.2:g.6857C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*264C>A	ENSP00000509954.1:n.*264C>A
ENST00000378842.8:c.676C>A MANE Select	ENSP00000368119.4:p.Leu226Ile
ENST00000378842.7:c.676C>A	ENSP00000368119.3:p.Leu226Ile
ENST00000450095.6:c.349C>A	ENSP00000401956.2:p.Leu117Ile
ENST00000472111.5:n.932C>A
ENST00000473506.6:c.*264C>A	ENSP00000432839.2:n.*264C>A
ENST00000473529.5:n.835C>A
ENST00000487381.5:n.1061C>A
ENST00000489643.6:n.451C>A
ENST00000554085.5:c.*420C>A	ENSP00000450419.1:n.*420C>A
ENST00000554550.5:c.*296C>A	ENSP00000451435.1:n.*296C>A
ENST00000554638.5:n.1148C>A
ENST00000555020.5:n.832C>A
ENST00000555086.5:n.680C>A
ENST00000555214.5:n.497C>A
ENST00000555754.1:n.21C>A
ENST00000556244.1:c.663C>A
ENST00000556278.1:c.421C>A	ENSP00000451792.1:p.Leu141Ile
ENST00000556494.5:n.797C>A
ENST00000557706.5:n.1238C>A
NM_000155.3:c.676C>A	NP_000146.2:p.Leu226Ile
NM_001258332.1:c.349C>A	NP_001245261.1:p.Leu117Ile
NM_000155.4:c.676C>A MANE Select	NP_000146.2:p.Leu226Ile
NM_001258332.2:c.349C>A	NP_001245261.1:p.Leu117Ile