Canonical Allele Identifier: CA2595114102

Gene: GALT

Linked Data

• dbSNP Id: rs2132342579
• gnomAD v3: 9-34647619-G-A
• gnomAD v4: 9-34647619-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647619G>A , CM000671.2:g.34647619G>A	GRCh38
NC_000009.11:g.34647616G>A , CM000671.1:g.34647616G>A	GRCh37
NC_000009.10:g.34637616G>A	NCBI36
NG_009029.1:g.5982G>A
NG_028966.1:g.435G>A
NG_009029.2:g.6031G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.328+52G>A	ENSP00000509954.1:n.328+52G>A
ENST00000378842.8:c.329-38G>A MANE Select	ENSP00000368119.4:n.329-38G>A
ENST00000378842.7:c.329-38G>A	ENSP00000368119.3:n.329-38G>A
ENST00000450095.6:c.51-213G>A	ENSP00000401956.2:n.51-213G>A
ENST00000465543.6:n.668-38G>A
ENST00000472111.5:n.421G>A
ENST00000473506.6:c.280-38G>A	ENSP00000432839.2:n.280-38G>A
ENST00000473529.5:n.427G>A
ENST00000485531.1:n.606G>A
ENST00000487381.5:n.588-38G>A
ENST00000489643.6:n.282+361G>A
ENST00000554085.5:c.*73-38G>A	ENSP00000450419.1:n.*73-38G>A
ENST00000554139.5:n.382-38G>A
ENST00000554330.5:n.328G>A
ENST00000554550.5:c.253-213G>A	ENSP00000451435.1:n.253-213G>A
ENST00000554638.5:n.637G>A
ENST00000554897.5:c.253-213G>A	ENSP00000450942.1:n.253-213G>A
ENST00000554944.5:n.361G>A
ENST00000555020.5:n.359-38G>A
ENST00000555086.5:n.333-38G>A
ENST00000555214.5:n.261+361G>A
ENST00000556157.1:n.453-38G>A
ENST00000556244.1:c.316-38G>A
ENST00000556278.1:c.252+361G>A	ENSP00000451792.1:n.252+361G>A
ENST00000556403.5:n.393G>A
ENST00000556494.5:n.412G>A
ENST00000557541.5:n.473-38G>A
ENST00000557706.5:n.727G>A
NM_000155.3:c.329-38G>A	NP_000146.2:n.329-38G>A
NM_001258332.1:c.51-213G>A	NP_001245261.1:n.51-213G>A
NM_000155.4:c.329-38G>A MANE Select	NP_000146.2:n.329-38G>A
NM_001258332.2:c.51-213G>A	NP_001245261.1:n.51-213G>A