Canonical Allele Identifier: CA373282045

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648382C>A (hg19) ; chr9:g.34648385C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648385C>A , CM000671.2:g.34648385C>A	GRCh38
NC_000009.11:g.34648382C>A , CM000671.1:g.34648382C>A	GRCh37
NC_000009.10:g.34638382C>A	NCBI36
NG_009029.1:g.6748C>A
NG_028966.1:g.1201C>A
NG_009029.2:g.6797C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*204C>A	ENSP00000509954.1:n.*204C>A
ENST00000378842.8:c.616C>A MANE Select	ENSP00000368119.4:p.Gln206Lys
ENST00000378842.7:c.616C>A	ENSP00000368119.3:p.Gln206Lys
ENST00000450095.6:c.289C>A	ENSP00000401956.2:p.Gln97Lys
ENST00000472111.5:n.872C>A
ENST00000473506.6:c.*204C>A	ENSP00000432839.2:n.*204C>A
ENST00000473529.5:n.775C>A
ENST00000487381.5:n.1001C>A
ENST00000489643.6:n.391C>A
ENST00000554085.5:c.*360C>A	ENSP00000450419.1:n.*360C>A
ENST00000554550.5:c.*236C>A	ENSP00000451435.1:n.*236C>A
ENST00000554638.5:n.1088C>A
ENST00000554944.5:n.965C>A
ENST00000555020.5:n.772C>A
ENST00000555086.5:n.620C>A
ENST00000555214.5:n.437C>A
ENST00000556244.1:c.603C>A
ENST00000556278.1:c.361C>A	ENSP00000451792.1:p.Gln121Lys
ENST00000556494.5:n.737C>A
ENST00000557706.5:n.1178C>A
NM_000155.3:c.616C>A	NP_000146.2:p.Gln206Lys
NM_001258332.1:c.289C>A	NP_001245261.1:p.Gln97Lys
NM_000155.4:c.616C>A MANE Select	NP_000146.2:p.Gln206Lys
NM_001258332.2:c.289C>A	NP_001245261.1:p.Gln97Lys