Canonical Allele Identifier: CA373283306

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648760A>T (hg19) ; chr9:g.34648763A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648763A>T , CM000671.2:g.34648763A>T	GRCh38
NC_000009.11:g.34648760A>T , CM000671.1:g.34648760A>T	GRCh37
NC_000009.10:g.34638760A>T	NCBI36
NG_009029.1:g.7126A>T
NG_028966.1:g.1579A>T
NG_009029.2:g.7175A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*277A>T	ENSP00000509954.1:n.*277A>T
ENST00000378842.8:c.689A>T MANE Select	ENSP00000368119.4:p.Glu230Val
ENST00000378842.7:c.689A>T	ENSP00000368119.3:p.Glu230Val
ENST00000450095.6:c.362A>T	ENSP00000401956.2:p.Glu121Val
ENST00000473506.6:c.*277A>T	ENSP00000432839.2:n.*277A>T
ENST00000473529.5:n.848A>T
ENST00000487381.5:n.1379A>T
ENST00000489643.6:n.769A>T
ENST00000554085.5:c.*433A>T	ENSP00000450419.1:n.*433A>T
ENST00000554550.5:c.*309A>T	ENSP00000451435.1:n.*309A>T
ENST00000554638.5:n.1161A>T
ENST00000555020.5:n.1150A>T
ENST00000555086.5:n.693A>T
ENST00000555754.1:n.34A>T
ENST00000556244.1:c.676A>T
ENST00000556278.1:c.432+307A>T	ENSP00000451792.1:n.432+307A>T
ENST00000557706.5:n.1251A>T
NM_000155.3:c.689A>T	NP_000146.2:p.Glu230Val
NM_001258332.1:c.362A>T	NP_001245261.1:p.Glu121Val
NM_000155.4:c.689A>T MANE Select	NP_000146.2:p.Glu230Val
NM_001258332.2:c.362A>T	NP_001245261.1:p.Glu121Val