Canonical Allele Identifier: CA373283279

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648759G>T (hg19) ; chr9:g.34648762G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648762G>T , CM000671.2:g.34648762G>T	GRCh38
NC_000009.11:g.34648759G>T , CM000671.1:g.34648759G>T	GRCh37
NC_000009.10:g.34638759G>T	NCBI36
NG_009029.1:g.7125G>T
NG_028966.1:g.1578G>T
NG_009029.2:g.7174G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*276G>T	ENSP00000509954.1:n.*276G>T
ENST00000378842.8:c.688G>T MANE Select	ENSP00000368119.4:p.Glu230Ter
ENST00000378842.7:c.688G>T	ENSP00000368119.3:p.Glu230Ter
ENST00000450095.6:c.361G>T	ENSP00000401956.2:p.Glu121Ter
ENST00000473506.6:c.*276G>T	ENSP00000432839.2:n.*276G>T
ENST00000473529.5:n.847G>T
ENST00000487381.5:n.1378G>T
ENST00000489643.6:n.768G>T
ENST00000554085.5:c.*432G>T	ENSP00000450419.1:n.*432G>T
ENST00000554550.5:c.*308G>T	ENSP00000451435.1:n.*308G>T
ENST00000554638.5:n.1160G>T
ENST00000555020.5:n.1149G>T
ENST00000555086.5:n.692G>T
ENST00000555754.1:n.33G>T
ENST00000556244.1:c.675G>T
ENST00000556278.1:c.432+306G>T	ENSP00000451792.1:n.432+306G>T
ENST00000557706.5:n.1250G>T
NM_000155.3:c.688G>T	NP_000146.2:p.Glu230Ter
NM_001258332.1:c.361G>T	NP_001245261.1:p.Glu121Ter
NM_000155.4:c.688G>T MANE Select	NP_000146.2:p.Glu230Ter
NM_001258332.2:c.361G>T	NP_001245261.1:p.Glu121Ter