Canonical Allele Identifier: CA259515

Gene: GALT

Linked Data

• ClinVar Variation Id: 2891881
• ClinVar RCV Id: RCV003610844
• dbSNP Id: rs111033779
• MyVariant Identifiers: chr9:g.34649010T>G (hg19) ; chr9:g.34649013T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649013T>G , CM000671.2:g.34649013T>G	GRCh38
NC_000009.11:g.34649010T>G , CM000671.1:g.34649010T>G	GRCh37
NC_000009.10:g.34639010T>G	NCBI36
NG_009029.1:g.7376T>G
NG_028966.1:g.1829T>G
NG_009029.2:g.7425T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*424T>G	ENSP00000509954.1:n.*424T>G
ENST00000378842.8:c.836T>G MANE Select	ENSP00000368119.4:p.Met279Arg
ENST00000378842.7:c.836T>G	ENSP00000368119.3:p.Met279Arg
ENST00000450095.6:c.509T>G	ENSP00000401956.2:p.Met170Arg
ENST00000488412.2:n.92T>G
ENST00000489643.6:n.916T>G
ENST00000554085.5:c.*580T>G	ENSP00000450419.1:n.*580T>G
ENST00000554550.5:c.*456T>G	ENSP00000451435.1:n.*456T>G
ENST00000554638.5:n.1308T>G
ENST00000555020.5:n.1297T>G
ENST00000555086.5:n.943T>G
ENST00000555754.1:n.284T>G
ENST00000556278.1:c.432+557T>G	ENSP00000451792.1:n.432+557T>G
ENST00000557706.5:n.1411T>G
NM_000155.3:c.836T>G	NP_000146.2:p.Met279Arg
NM_001258332.1:c.509T>G	NP_001245261.1:p.Met170Arg
NM_000155.4:c.836T>G MANE Select	NP_000146.2:p.Met279Arg
NM_001258332.2:c.509T>G	NP_001245261.1:p.Met170Arg