Canonical Allele Identifier: CA373281975

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648364C>A (hg19) ; chr9:g.34648367C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648367C>A , CM000671.2:g.34648367C>A	GRCh38
NC_000009.11:g.34648364C>A , CM000671.1:g.34648364C>A	GRCh37
NC_000009.10:g.34638364C>A	NCBI36
NG_009029.1:g.6730C>A
NG_028966.1:g.1183C>A
NG_009029.2:g.6779C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*186C>A	ENSP00000509954.1:n.*186C>A
ENST00000378842.8:c.598C>A MANE Select	ENSP00000368119.4:p.Gln200Lys
ENST00000378842.7:c.598C>A	ENSP00000368119.3:p.Gln200Lys
ENST00000450095.6:c.271C>A	ENSP00000401956.2:p.Gln91Lys
ENST00000472111.5:n.854C>A
ENST00000473506.6:c.*186C>A	ENSP00000432839.2:n.*186C>A
ENST00000473529.5:n.757C>A
ENST00000485531.1:n.1192C>A
ENST00000487381.5:n.983C>A
ENST00000489643.6:n.373C>A
ENST00000554085.5:c.*342C>A	ENSP00000450419.1:n.*342C>A
ENST00000554139.5:n.844C>A
ENST00000554550.5:c.*218C>A	ENSP00000451435.1:n.*218C>A
ENST00000554638.5:n.1070C>A
ENST00000554897.5:c.*285C>A	ENSP00000450942.1:n.*285C>A
ENST00000554944.5:n.947C>A
ENST00000555020.5:n.754C>A
ENST00000555086.5:n.602C>A
ENST00000555214.5:n.419C>A
ENST00000556244.1:c.585C>A
ENST00000556278.1:c.343C>A	ENSP00000451792.1:p.Gln115Lys
ENST00000556494.5:n.719C>A
ENST00000557706.5:n.1160C>A
NM_000155.3:c.598C>A	NP_000146.2:p.Gln200Lys
NM_001258332.1:c.271C>A	NP_001245261.1:p.Gln91Lys
NM_000155.4:c.598C>A MANE Select	NP_000146.2:p.Gln200Lys
NM_001258332.2:c.271C>A	NP_001245261.1:p.Gln91Lys