Canonical Allele Identifier: CA373280396

Gene: GALT

Linked Data

• gnomAD v4: 9-34647686-A-G
• MyVariant Identifiers: chr9:g.34647683A>G (hg19) ; chr9:g.34647686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647686A>G , CM000671.2:g.34647686A>G	GRCh38
NC_000009.11:g.34647683A>G , CM000671.1:g.34647683A>G	GRCh37
NC_000009.10:g.34637683A>G	NCBI36
NG_009029.1:g.6049A>G
NG_028966.1:g.502A>G
NG_009029.2:g.6098A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.328+119A>G	ENSP00000509954.1:n.328+119A>G
ENST00000378842.8:c.358A>G MANE Select	ENSP00000368119.4:p.Lys120Glu
ENST00000378842.7:c.358A>G	ENSP00000368119.3:p.Lys120Glu
ENST00000450095.6:c.51-146A>G	ENSP00000401956.2:n.51-146A>G
ENST00000465543.6:n.697A>G
ENST00000472111.5:n.488A>G
ENST00000473506.6:c.309A>G	ENSP00000432839.2:p.Gln103=
ENST00000473529.5:n.494A>G
ENST00000485531.1:n.673A>G
ENST00000487381.5:n.617A>G
ENST00000489643.6:n.283-429A>G
ENST00000554085.5:c.*102A>G	ENSP00000450419.1:n.*102A>G
ENST00000554139.5:n.411A>G
ENST00000554330.5:n.395A>G
ENST00000554550.5:c.253-146A>G	ENSP00000451435.1:n.253-146A>G
ENST00000554638.5:n.704A>G
ENST00000554897.5:c.253-146A>G	ENSP00000450942.1:n.253-146A>G
ENST00000554944.5:n.428A>G
ENST00000555020.5:n.388A>G
ENST00000555086.5:n.362A>G
ENST00000555214.5:n.262-362A>G
ENST00000556157.1:n.482A>G
ENST00000556244.1:c.345A>G
ENST00000556278.1:c.253-429A>G	ENSP00000451792.1:n.253-429A>G
ENST00000556403.5:n.460A>G
ENST00000556494.5:n.479A>G
ENST00000557541.5:n.502A>G
ENST00000557706.5:n.794A>G
NM_000155.3:c.358A>G	NP_000146.2:p.Lys120Glu
NM_001258332.1:c.51-146A>G	NP_001245261.1:n.51-146A>G
NM_000155.4:c.358A>G MANE Select	NP_000146.2:p.Lys120Glu
NM_001258332.2:c.51-146A>G	NP_001245261.1:n.51-146A>G