Canonical Allele Identifier: CA373283572

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648793T>A (hg19) ; chr9:g.34648796T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648796T>A , CM000671.2:g.34648796T>A	GRCh38
NC_000009.11:g.34648793T>A , CM000671.1:g.34648793T>A	GRCh37
NC_000009.10:g.34638793T>A	NCBI36
NG_009029.1:g.7159T>A
NG_028966.1:g.1612T>A
NG_009029.2:g.7208T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*310T>A	ENSP00000509954.1:n.*310T>A
ENST00000378842.8:c.722T>A MANE Select	ENSP00000368119.4:p.Val241Glu
ENST00000378842.7:c.722T>A	ENSP00000368119.3:p.Val241Glu
ENST00000450095.6:c.395T>A	ENSP00000401956.2:p.Val132Glu
ENST00000473506.6:c.*310T>A	ENSP00000432839.2:n.*310T>A
ENST00000473529.5:n.881T>A
ENST00000487381.5:n.1412T>A
ENST00000489643.6:n.802T>A
ENST00000554085.5:c.*466T>A	ENSP00000450419.1:n.*466T>A
ENST00000554550.5:c.*342T>A	ENSP00000451435.1:n.*342T>A
ENST00000554638.5:n.1194T>A
ENST00000555020.5:n.1183T>A
ENST00000555086.5:n.726T>A
ENST00000555754.1:n.67T>A
ENST00000556244.1:c.709T>A
ENST00000556278.1:c.432+340T>A	ENSP00000451792.1:n.432+340T>A
ENST00000557706.5:n.1284T>A
NM_000155.3:c.722T>A	NP_000146.2:p.Val241Glu
NM_001258332.1:c.395T>A	NP_001245261.1:p.Val132Glu
NM_000155.4:c.722T>A MANE Select	NP_000146.2:p.Val241Glu
NM_001258332.2:c.395T>A	NP_001245261.1:p.Val132Glu