Canonical Allele Identifier: CA373282233

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648419T>A (hg19) ; chr9:g.34648422T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648422T>A , CM000671.2:g.34648422T>A	GRCh38
NC_000009.11:g.34648419T>A , CM000671.1:g.34648419T>A	GRCh37
NC_000009.10:g.34638419T>A	NCBI36
NG_009029.1:g.6785T>A
NG_028966.1:g.1238T>A
NG_009029.2:g.6834T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*241T>A	ENSP00000509954.1:n.*241T>A
ENST00000378842.8:c.653T>A MANE Select	ENSP00000368119.4:p.Leu218Gln
ENST00000378842.7:c.653T>A	ENSP00000368119.3:p.Leu218Gln
ENST00000450095.6:c.326T>A	ENSP00000401956.2:p.Leu109Gln
ENST00000472111.5:n.909T>A
ENST00000473506.6:c.*241T>A	ENSP00000432839.2:n.*241T>A
ENST00000473529.5:n.812T>A
ENST00000487381.5:n.1038T>A
ENST00000489643.6:n.428T>A
ENST00000554085.5:c.*397T>A	ENSP00000450419.1:n.*397T>A
ENST00000554550.5:c.*273T>A	ENSP00000451435.1:n.*273T>A
ENST00000554638.5:n.1125T>A
ENST00000555020.5:n.809T>A
ENST00000555086.5:n.657T>A
ENST00000555214.5:n.474T>A
ENST00000556244.1:c.640T>A
ENST00000556278.1:c.398T>A	ENSP00000451792.1:p.Leu133Gln
ENST00000556494.5:n.774T>A
ENST00000557706.5:n.1215T>A
NM_000155.3:c.653T>A	NP_000146.2:p.Leu218Gln
NM_001258332.1:c.326T>A	NP_001245261.1:p.Leu109Gln
NM_000155.4:c.653T>A MANE Select	NP_000146.2:p.Leu218Gln
NM_001258332.2:c.326T>A	NP_001245261.1:p.Leu109Gln