Canonical Allele Identifier: CA373281927

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648353C>G (hg19) ; chr9:g.34648356C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648356C>G , CM000671.2:g.34648356C>G	GRCh38
NC_000009.11:g.34648353C>G , CM000671.1:g.34648353C>G	GRCh37
NC_000009.10:g.34638353C>G	NCBI36
NG_009029.1:g.6719C>G
NG_028966.1:g.1172C>G
NG_009029.2:g.6768C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*175C>G	ENSP00000509954.1:n.*175C>G
ENST00000378842.8:c.587C>G MANE Select	ENSP00000368119.4:p.Pro196Arg
ENST00000378842.7:c.587C>G	ENSP00000368119.3:p.Pro196Arg
ENST00000450095.6:c.260C>G	ENSP00000401956.2:p.Pro87Arg
ENST00000472111.5:n.843C>G
ENST00000473506.6:c.*175C>G	ENSP00000432839.2:n.*175C>G
ENST00000473529.5:n.746C>G
ENST00000485531.1:n.1181C>G
ENST00000487381.5:n.972C>G
ENST00000489643.6:n.362C>G
ENST00000554085.5:c.*331C>G	ENSP00000450419.1:n.*331C>G
ENST00000554139.5:n.833C>G
ENST00000554550.5:c.*207C>G	ENSP00000451435.1:n.*207C>G
ENST00000554638.5:n.1059C>G
ENST00000554897.5:c.*274C>G	ENSP00000450942.1:n.*274C>G
ENST00000554944.5:n.936C>G
ENST00000555020.5:n.743C>G
ENST00000555086.5:n.591C>G
ENST00000555214.5:n.408C>G
ENST00000556244.1:c.574C>G
ENST00000556278.1:c.332C>G	ENSP00000451792.1:p.Pro111Arg
ENST00000556494.5:n.708C>G
ENST00000557706.5:n.1149C>G
NM_000155.3:c.587C>G	NP_000146.2:p.Pro196Arg
NM_001258332.1:c.260C>G	NP_001245261.1:p.Pro87Arg
NM_000155.4:c.587C>G MANE Select	NP_000146.2:p.Pro196Arg
NM_001258332.2:c.260C>G	NP_001245261.1:p.Pro87Arg