Canonical Allele Identifier: CA373281848

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648340A>T (hg19) ; chr9:g.34648343A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648343A>T , CM000671.2:g.34648343A>T	GRCh38
NC_000009.11:g.34648340A>T , CM000671.1:g.34648340A>T	GRCh37
NC_000009.10:g.34638340A>T	NCBI36
NG_009029.1:g.6706A>T
NG_028966.1:g.1159A>T
NG_009029.2:g.6755A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*162A>T	ENSP00000509954.1:n.*162A>T
ENST00000378842.8:c.574A>T MANE Select	ENSP00000368119.4:p.Ser192Cys
ENST00000378842.7:c.574A>T	ENSP00000368119.3:p.Ser192Cys
ENST00000450095.6:c.247A>T	ENSP00000401956.2:p.Ser83Cys
ENST00000472111.5:n.830A>T
ENST00000473506.6:c.*162A>T	ENSP00000432839.2:n.*162A>T
ENST00000473529.5:n.733A>T
ENST00000485531.1:n.1168A>T
ENST00000487381.5:n.959A>T
ENST00000489643.6:n.349A>T
ENST00000554085.5:c.*318A>T	ENSP00000450419.1:n.*318A>T
ENST00000554139.5:n.820A>T
ENST00000554550.5:c.*194A>T	ENSP00000451435.1:n.*194A>T
ENST00000554638.5:n.1046A>T
ENST00000554897.5:c.*261A>T	ENSP00000450942.1:n.*261A>T
ENST00000554944.5:n.923A>T
ENST00000555020.5:n.730A>T
ENST00000555086.5:n.578A>T
ENST00000555214.5:n.395A>T
ENST00000556244.1:c.561A>T
ENST00000556278.1:c.319A>T	ENSP00000451792.1:p.Ser107Cys
ENST00000556494.5:n.695A>T
ENST00000557706.5:n.1136A>T
NM_000155.3:c.574A>T	NP_000146.2:p.Ser192Cys
NM_001258332.1:c.247A>T	NP_001245261.1:p.Ser83Cys
NM_000155.4:c.574A>T MANE Select	NP_000146.2:p.Ser192Cys
NM_001258332.2:c.247A>T	NP_001245261.1:p.Ser83Cys