Canonical Allele Identifier: CA373283715

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648810G>T (hg19) ; chr9:g.34648813G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648813G>T , CM000671.2:g.34648813G>T	GRCh38
NC_000009.11:g.34648810G>T , CM000671.1:g.34648810G>T	GRCh37
NC_000009.10:g.34638810G>T	NCBI36
NG_009029.1:g.7176G>T
NG_028966.1:g.1629G>T
NG_009029.2:g.7225G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*327G>T	ENSP00000509954.1:n.*327G>T
ENST00000378842.8:c.739G>T MANE Select	ENSP00000368119.4:p.Ala247Ser
ENST00000378842.7:c.739G>T	ENSP00000368119.3:p.Ala247Ser
ENST00000450095.6:c.412G>T	ENSP00000401956.2:p.Ala138Ser
ENST00000473506.6:c.*327G>T	ENSP00000432839.2:n.*327G>T
ENST00000473529.5:n.898G>T
ENST00000487381.5:n.1429G>T
ENST00000489643.6:n.819G>T
ENST00000554085.5:c.*483G>T	ENSP00000450419.1:n.*483G>T
ENST00000554550.5:c.*359G>T	ENSP00000451435.1:n.*359G>T
ENST00000554638.5:n.1211G>T
ENST00000555020.5:n.1200G>T
ENST00000555086.5:n.743G>T
ENST00000555754.1:n.84G>T
ENST00000556244.1:c.726G>T
ENST00000556278.1:c.432+357G>T	ENSP00000451792.1:n.432+357G>T
ENST00000557706.5:n.1301G>T
NM_000155.3:c.739G>T	NP_000146.2:p.Ala247Ser
NM_001258332.1:c.412G>T	NP_001245261.1:p.Ala138Ser
NM_000155.4:c.739G>T MANE Select	NP_000146.2:p.Ala247Ser
NM_001258332.2:c.412G>T	NP_001245261.1:p.Ala138Ser