Canonical Allele Identifier: CA373281865

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648343A>T (hg19) ; chr9:g.34648346A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648346A>T , CM000671.2:g.34648346A>T	GRCh38
NC_000009.11:g.34648343A>T , CM000671.1:g.34648343A>T	GRCh37
NC_000009.10:g.34638343A>T	NCBI36
NG_009029.1:g.6709A>T
NG_028966.1:g.1162A>T
NG_009029.2:g.6758A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*165A>T	ENSP00000509954.1:n.*165A>T
ENST00000378842.8:c.577A>T MANE Select	ENSP00000368119.4:p.Ser193Cys
ENST00000378842.7:c.577A>T	ENSP00000368119.3:p.Ser193Cys
ENST00000450095.6:c.250A>T	ENSP00000401956.2:p.Ser84Cys
ENST00000472111.5:n.833A>T
ENST00000473506.6:c.*165A>T	ENSP00000432839.2:n.*165A>T
ENST00000473529.5:n.736A>T
ENST00000485531.1:n.1171A>T
ENST00000487381.5:n.962A>T
ENST00000489643.6:n.352A>T
ENST00000554085.5:c.*321A>T	ENSP00000450419.1:n.*321A>T
ENST00000554139.5:n.823A>T
ENST00000554550.5:c.*197A>T	ENSP00000451435.1:n.*197A>T
ENST00000554638.5:n.1049A>T
ENST00000554897.5:c.*264A>T	ENSP00000450942.1:n.*264A>T
ENST00000554944.5:n.926A>T
ENST00000555020.5:n.733A>T
ENST00000555086.5:n.581A>T
ENST00000555214.5:n.398A>T
ENST00000556244.1:c.564A>T
ENST00000556278.1:c.322A>T	ENSP00000451792.1:p.Ser108Cys
ENST00000556494.5:n.698A>T
ENST00000557706.5:n.1139A>T
NM_000155.3:c.577A>T	NP_000146.2:p.Ser193Cys
NM_001258332.1:c.250A>T	NP_001245261.1:p.Ser84Cys
NM_000155.4:c.577A>T MANE Select	NP_000146.2:p.Ser193Cys
NM_001258332.2:c.250A>T	NP_001245261.1:p.Ser84Cys