Canonical Allele Identifier: CA373282164

Gene: GALT

Linked Data

• gnomAD v4: 9-34648407-A-G
• MyVariant Identifiers: chr9:g.34648404A>G (hg19) ; chr9:g.34648407A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648407A>G , CM000671.2:g.34648407A>G	GRCh38
NC_000009.11:g.34648404A>G , CM000671.1:g.34648404A>G	GRCh37
NC_000009.10:g.34638404A>G	NCBI36
NG_009029.1:g.6770A>G
NG_028966.1:g.1223A>G
NG_009029.2:g.6819A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*226A>G	ENSP00000509954.1:n.*226A>G
ENST00000378842.8:c.638A>G MANE Select	ENSP00000368119.4:p.His213Arg
ENST00000378842.7:c.638A>G	ENSP00000368119.3:p.His213Arg
ENST00000450095.6:c.311A>G	ENSP00000401956.2:p.His104Arg
ENST00000472111.5:n.894A>G
ENST00000473506.6:c.*226A>G	ENSP00000432839.2:n.*226A>G
ENST00000473529.5:n.797A>G
ENST00000487381.5:n.1023A>G
ENST00000489643.6:n.413A>G
ENST00000554085.5:c.*382A>G	ENSP00000450419.1:n.*382A>G
ENST00000554550.5:c.*258A>G	ENSP00000451435.1:n.*258A>G
ENST00000554638.5:n.1110A>G
ENST00000555020.5:n.794A>G
ENST00000555086.5:n.642A>G
ENST00000555214.5:n.459A>G
ENST00000556244.1:c.625A>G
ENST00000556278.1:c.383A>G	ENSP00000451792.1:p.His128Arg
ENST00000556494.5:n.759A>G
ENST00000557706.5:n.1200A>G
NM_000155.3:c.638A>G	NP_000146.2:p.His213Arg
NM_001258332.1:c.311A>G	NP_001245261.1:p.His104Arg
NM_000155.4:c.638A>G MANE Select	NP_000146.2:p.His213Arg
NM_001258332.2:c.311A>G	NP_001245261.1:p.His104Arg