Canonical Allele Identifier: CA373282133

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648399T>G (hg19) ; chr9:g.34648402T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648402T>G , CM000671.2:g.34648402T>G	GRCh38
NC_000009.11:g.34648399T>G , CM000671.1:g.34648399T>G	GRCh37
NC_000009.10:g.34638399T>G	NCBI36
NG_009029.1:g.6765T>G
NG_028966.1:g.1218T>G
NG_009029.2:g.6814T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*221T>G	ENSP00000509954.1:n.*221T>G
ENST00000378842.8:c.633T>G MANE Select	ENSP00000368119.4:p.Ser211Arg
ENST00000378842.7:c.633T>G	ENSP00000368119.3:p.Ser211Arg
ENST00000450095.6:c.306T>G	ENSP00000401956.2:p.Ser102Arg
ENST00000472111.5:n.889T>G
ENST00000473506.6:c.*221T>G	ENSP00000432839.2:n.*221T>G
ENST00000473529.5:n.792T>G
ENST00000487381.5:n.1018T>G
ENST00000489643.6:n.408T>G
ENST00000554085.5:c.*377T>G	ENSP00000450419.1:n.*377T>G
ENST00000554550.5:c.*253T>G	ENSP00000451435.1:n.*253T>G
ENST00000554638.5:n.1105T>G
ENST00000555020.5:n.789T>G
ENST00000555086.5:n.637T>G
ENST00000555214.5:n.454T>G
ENST00000556244.1:c.620T>G
ENST00000556278.1:c.378T>G	ENSP00000451792.1:p.Ser126Arg
ENST00000556494.5:n.754T>G
ENST00000557706.5:n.1195T>G
NM_000155.3:c.633T>G	NP_000146.2:p.Ser211Arg
NM_001258332.1:c.306T>G	NP_001245261.1:p.Ser102Arg
NM_000155.4:c.633T>G MANE Select	NP_000146.2:p.Ser211Arg
NM_001258332.2:c.306T>G	NP_001245261.1:p.Ser102Arg