Canonical Allele Identifier: CA373282015

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648375G>T (hg19) ; chr9:g.34648378G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648378G>T , CM000671.2:g.34648378G>T	GRCh38
NC_000009.11:g.34648375G>T , CM000671.1:g.34648375G>T	GRCh37
NC_000009.10:g.34638375G>T	NCBI36
NG_009029.1:g.6741G>T
NG_028966.1:g.1194G>T
NG_009029.2:g.6790G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*197G>T	ENSP00000509954.1:n.*197G>T
ENST00000378842.8:c.609G>T MANE Select	ENSP00000368119.4:p.Glu203Asp
ENST00000378842.7:c.609G>T	ENSP00000368119.3:p.Glu203Asp
ENST00000450095.6:c.282G>T	ENSP00000401956.2:p.Glu94Asp
ENST00000472111.5:n.865G>T
ENST00000473506.6:c.*197G>T	ENSP00000432839.2:n.*197G>T
ENST00000473529.5:n.768G>T
ENST00000487381.5:n.994G>T
ENST00000489643.6:n.384G>T
ENST00000554085.5:c.*353G>T	ENSP00000450419.1:n.*353G>T
ENST00000554139.5:n.855G>T
ENST00000554550.5:c.*229G>T	ENSP00000451435.1:n.*229G>T
ENST00000554638.5:n.1081G>T
ENST00000554944.5:n.958G>T
ENST00000555020.5:n.765G>T
ENST00000555086.5:n.613G>T
ENST00000555214.5:n.430G>T
ENST00000556244.1:c.596G>T
ENST00000556278.1:c.354G>T	ENSP00000451792.1:p.Glu118Asp
ENST00000556494.5:n.730G>T
ENST00000557706.5:n.1171G>T
NM_000155.3:c.609G>T	NP_000146.2:p.Glu203Asp
NM_001258332.1:c.282G>T	NP_001245261.1:p.Glu94Asp
NM_000155.4:c.609G>T MANE Select	NP_000146.2:p.Glu203Asp
NM_001258332.2:c.282G>T	NP_001245261.1:p.Glu94Asp