Canonical Allele Identifier: CA373282050

Gene: GALT

Linked Data

• ClinVar Variation Id: 650599
• ClinVar RCV Id: RCV000805776
• dbSNP Id: rs1587239309
• MyVariant Identifiers: chr9:g.34648383A>G (hg19) ; chr9:g.34648386A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648386A>G , CM000671.2:g.34648386A>G	GRCh38
NC_000009.11:g.34648383A>G , CM000671.1:g.34648383A>G	GRCh37
NC_000009.10:g.34638383A>G	NCBI36
NG_009029.1:g.6749A>G
NG_028966.1:g.1202A>G
NG_009029.2:g.6798A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*205A>G	ENSP00000509954.1:n.*205A>G
ENST00000378842.8:c.617A>G MANE Select	ENSP00000368119.4:p.Gln206Arg
ENST00000378842.7:c.617A>G	ENSP00000368119.3:p.Gln206Arg
ENST00000450095.6:c.290A>G	ENSP00000401956.2:p.Gln97Arg
ENST00000472111.5:n.873A>G
ENST00000473506.6:c.*205A>G	ENSP00000432839.2:n.*205A>G
ENST00000473529.5:n.776A>G
ENST00000487381.5:n.1002A>G
ENST00000489643.6:n.392A>G
ENST00000554085.5:c.*361A>G	ENSP00000450419.1:n.*361A>G
ENST00000554550.5:c.*237A>G	ENSP00000451435.1:n.*237A>G
ENST00000554638.5:n.1089A>G
ENST00000554944.5:n.966A>G
ENST00000555020.5:n.773A>G
ENST00000555086.5:n.621A>G
ENST00000555214.5:n.438A>G
ENST00000556244.1:c.604A>G
ENST00000556278.1:c.362A>G	ENSP00000451792.1:p.Gln121Arg
ENST00000556494.5:n.738A>G
ENST00000557706.5:n.1179A>G
NM_000155.3:c.617A>G	NP_000146.2:p.Gln206Arg
NM_001258332.1:c.290A>G	NP_001245261.1:p.Gln97Arg
NM_000155.4:c.617A>G MANE Select	NP_000146.2:p.Gln206Arg
NM_001258332.2:c.290A>G	NP_001245261.1:p.Gln97Arg