Canonical Allele Identifier: CA373281873

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648345T>G (hg19) ; chr9:g.34648348T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648348T>G , CM000671.2:g.34648348T>G	GRCh38
NC_000009.11:g.34648345T>G , CM000671.1:g.34648345T>G	GRCh37
NC_000009.10:g.34638345T>G	NCBI36
NG_009029.1:g.6711T>G
NG_028966.1:g.1164T>G
NG_009029.2:g.6760T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*167T>G	ENSP00000509954.1:n.*167T>G
ENST00000378842.8:c.579T>G MANE Select	ENSP00000368119.4:p.Ser193Arg
ENST00000378842.7:c.579T>G	ENSP00000368119.3:p.Ser193Arg
ENST00000450095.6:c.252T>G	ENSP00000401956.2:p.Ser84Arg
ENST00000472111.5:n.835T>G
ENST00000473506.6:c.*167T>G	ENSP00000432839.2:n.*167T>G
ENST00000473529.5:n.738T>G
ENST00000485531.1:n.1173T>G
ENST00000487381.5:n.964T>G
ENST00000489643.6:n.354T>G
ENST00000554085.5:c.*323T>G	ENSP00000450419.1:n.*323T>G
ENST00000554139.5:n.825T>G
ENST00000554550.5:c.*199T>G	ENSP00000451435.1:n.*199T>G
ENST00000554638.5:n.1051T>G
ENST00000554897.5:c.*266T>G	ENSP00000450942.1:n.*266T>G
ENST00000554944.5:n.928T>G
ENST00000555020.5:n.735T>G
ENST00000555086.5:n.583T>G
ENST00000555214.5:n.400T>G
ENST00000556244.1:c.566T>G
ENST00000556278.1:c.324T>G	ENSP00000451792.1:p.Ser108Arg
ENST00000556494.5:n.700T>G
ENST00000557706.5:n.1141T>G
NM_000155.3:c.579T>G	NP_000146.2:p.Ser193Arg
NM_001258332.1:c.252T>G	NP_001245261.1:p.Ser84Arg
NM_000155.4:c.579T>G MANE Select	NP_000146.2:p.Ser193Arg
NM_001258332.2:c.252T>G	NP_001245261.1:p.Ser84Arg