Canonical Allele Identifier: CA373281429

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648127G>T (hg19) ; chr9:g.34648130G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648130G>T , CM000671.2:g.34648130G>T	GRCh38
NC_000009.11:g.34648127G>T , CM000671.1:g.34648127G>T	GRCh37
NC_000009.10:g.34638127G>T	NCBI36
NG_009029.1:g.6493G>T
NG_028966.1:g.946G>T
NG_009029.2:g.6542G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*111G>T	ENSP00000509954.1:n.*111G>T
ENST00000378842.8:c.523G>T MANE Select	ENSP00000368119.4:p.Gly175Cys
ENST00000378842.7:c.523G>T	ENSP00000368119.3:p.Gly175Cys
ENST00000450095.6:c.196G>T	ENSP00000401956.2:p.Gly66Cys
ENST00000465543.6:n.862G>T
ENST00000472111.5:n.779G>T
ENST00000473506.6:c.*111G>T	ENSP00000432839.2:n.*111G>T
ENST00000473529.5:n.682G>T
ENST00000485531.1:n.1117G>T
ENST00000487381.5:n.908G>T
ENST00000489643.6:n.298G>T
ENST00000554085.5:c.*267G>T	ENSP00000450419.1:n.*267G>T
ENST00000554139.5:n.769G>T
ENST00000554550.5:c.*143G>T	ENSP00000451435.1:n.*143G>T
ENST00000554638.5:n.995G>T
ENST00000554897.5:c.*210G>T	ENSP00000450942.1:n.*210G>T
ENST00000554944.5:n.872G>T
ENST00000555020.5:n.679G>T
ENST00000555086.5:n.527G>T
ENST00000555214.5:n.344G>T
ENST00000556244.1:c.510G>T
ENST00000556278.1:c.268G>T	ENSP00000451792.1:p.Gly90Cys
ENST00000556494.5:n.644G>T
ENST00000557706.5:n.1085G>T
NM_000155.3:c.523G>T	NP_000146.2:p.Gly175Cys
NM_001258332.1:c.196G>T	NP_001245261.1:p.Gly66Cys
NM_000155.4:c.523G>T MANE Select	NP_000146.2:p.Gly175Cys
NM_001258332.2:c.196G>T	NP_001245261.1:p.Gly66Cys