Canonical Allele Identifier: CA464595681

Gene: GALT

Linked Data

• dbSNP Id: rs1821122847
• MyVariant Identifiers: chr9:g.34647129G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647132G>T , CM000671.2:g.34647132G>T	GRCh38
NC_000009.11:g.34647129G>T , CM000671.1:g.34647129G>T	GRCh37
NC_000009.10:g.34637129G>T	NCBI36
NG_009029.1:g.5495G>T
NG_009029.2:g.5544G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.126G>T	ENSP00000509954.1:p.Val42=
ENST00000378842.8:c.126G>T MANE Select	ENSP00000368119.4:p.Val42=
ENST00000378842.7:c.126G>T	ENSP00000368119.3:p.Val42=
ENST00000450095.6:c.-77G>T	ENSP00000401956.2:n.-77G>T
ENST00000465543.6:n.465G>T
ENST00000468099.2:n.166G>T
ENST00000472111.5:n.167G>T
ENST00000473506.6:c.126G>T	ENSP00000432839.2:p.Val42=
ENST00000473529.5:n.173G>T
ENST00000485531.1:n.119G>T
ENST00000487381.5:n.152G>T
ENST00000489643.6:n.156G>T
ENST00000554085.5:c.126G>T	ENSP00000450419.1:p.Val42=
ENST00000554139.5:n.179G>T
ENST00000554330.5:n.123G>T
ENST00000554550.5:c.126G>T	ENSP00000451435.1:p.Val42=
ENST00000554638.5:n.150G>T
ENST00000554897.5:c.126G>T	ENSP00000450942.1:p.Val42=
ENST00000554944.5:n.156G>T
ENST00000555020.5:n.156G>T
ENST00000555086.5:n.130G>T
ENST00000555214.5:n.135G>T
ENST00000556157.1:n.233G>T
ENST00000556244.1:c.10G>T
ENST00000556278.1:c.126G>T	ENSP00000451792.1:p.Val42=
ENST00000556403.5:n.139G>T
ENST00000556494.5:n.158G>T
ENST00000557541.5:n.319G>T
ENST00000557706.5:n.240G>T
ENST00000605275.1:n.664G>T
NM_000155.3:c.126G>T	NP_000146.2:p.Val42=
NM_001258332.1:c.-77G>T	NP_001245261.1:n.-77G>T
NM_000155.4:c.126G>T MANE Select	NP_000146.2:p.Val42=
NM_001258332.2:c.-77G>T	NP_001245261.1:n.-77G>T