Canonical Allele Identifier: CA373282263

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648424G>T (hg19) ; chr9:g.34648427G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648427G>T , CM000671.2:g.34648427G>T	GRCh38
NC_000009.11:g.34648424G>T , CM000671.1:g.34648424G>T	GRCh37
NC_000009.10:g.34638424G>T	NCBI36
NG_009029.1:g.6790G>T
NG_028966.1:g.1243G>T
NG_009029.2:g.6839G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*246G>T	ENSP00000509954.1:n.*246G>T
ENST00000378842.8:c.658G>T MANE Select	ENSP00000368119.4:p.Glu220Ter
ENST00000378842.7:c.658G>T	ENSP00000368119.3:p.Glu220Ter
ENST00000450095.6:c.331G>T	ENSP00000401956.2:p.Glu111Ter
ENST00000472111.5:n.914G>T
ENST00000473506.6:c.*246G>T	ENSP00000432839.2:n.*246G>T
ENST00000473529.5:n.817G>T
ENST00000487381.5:n.1043G>T
ENST00000489643.6:n.433G>T
ENST00000554085.5:c.*402G>T	ENSP00000450419.1:n.*402G>T
ENST00000554550.5:c.*278G>T	ENSP00000451435.1:n.*278G>T
ENST00000554638.5:n.1130G>T
ENST00000555020.5:n.814G>T
ENST00000555086.5:n.662G>T
ENST00000555214.5:n.479G>T
ENST00000555754.1:n.3G>T
ENST00000556244.1:c.645G>T
ENST00000556278.1:c.403G>T	ENSP00000451792.1:p.Glu135Ter
ENST00000556494.5:n.779G>T
ENST00000557706.5:n.1220G>T
NM_000155.3:c.658G>T	NP_000146.2:p.Glu220Ter
NM_001258332.1:c.331G>T	NP_001245261.1:p.Glu111Ter
NM_000155.4:c.658G>T MANE Select	NP_000146.2:p.Glu220Ter
NM_001258332.2:c.331G>T	NP_001245261.1:p.Glu111Ter