Canonical Allele Identifier: CA373281947

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648357T>G (hg19) ; chr9:g.34648360T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648360T>G , CM000671.2:g.34648360T>G	GRCh38
NC_000009.11:g.34648357T>G , CM000671.1:g.34648357T>G	GRCh37
NC_000009.10:g.34638357T>G	NCBI36
NG_009029.1:g.6723T>G
NG_028966.1:g.1176T>G
NG_009029.2:g.6772T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*179T>G	ENSP00000509954.1:n.*179T>G
ENST00000378842.8:c.591T>G MANE Select	ENSP00000368119.4:p.Asp197Glu
ENST00000378842.7:c.591T>G	ENSP00000368119.3:p.Asp197Glu
ENST00000450095.6:c.264T>G	ENSP00000401956.2:p.Asp88Glu
ENST00000472111.5:n.847T>G
ENST00000473506.6:c.*179T>G	ENSP00000432839.2:n.*179T>G
ENST00000473529.5:n.750T>G
ENST00000485531.1:n.1185T>G
ENST00000487381.5:n.976T>G
ENST00000489643.6:n.366T>G
ENST00000554085.5:c.*335T>G	ENSP00000450419.1:n.*335T>G
ENST00000554139.5:n.837T>G
ENST00000554550.5:c.*211T>G	ENSP00000451435.1:n.*211T>G
ENST00000554638.5:n.1063T>G
ENST00000554897.5:c.*278T>G	ENSP00000450942.1:n.*278T>G
ENST00000554944.5:n.940T>G
ENST00000555020.5:n.747T>G
ENST00000555086.5:n.595T>G
ENST00000555214.5:n.412T>G
ENST00000556244.1:c.578T>G
ENST00000556278.1:c.336T>G	ENSP00000451792.1:p.Asp112Glu
ENST00000556494.5:n.712T>G
ENST00000557706.5:n.1153T>G
NM_000155.3:c.591T>G	NP_000146.2:p.Asp197Glu
NM_001258332.1:c.264T>G	NP_001245261.1:p.Asp88Glu
NM_000155.4:c.591T>G MANE Select	NP_000146.2:p.Asp197Glu
NM_001258332.2:c.264T>G	NP_001245261.1:p.Asp88Glu