Canonical Allele Identifier: CA373284003

Gene: GALT

Linked Data

• dbSNP Id: rs111033847
• MyVariant Identifiers: chr9:g.34648874C>T (hg19) ; chr9:g.34648877C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648877C>T , CM000671.2:g.34648877C>T	GRCh38
NC_000009.11:g.34648874C>T , CM000671.1:g.34648874C>T	GRCh37
NC_000009.10:g.34638874C>T	NCBI36
NG_009029.1:g.7240C>T
NG_028966.1:g.1693C>T
NG_009029.2:g.7289C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*391C>T	ENSP00000509954.1:n.*391C>T
ENST00000378842.8:c.803C>T MANE Select	ENSP00000368119.4:p.Thr268Ile
ENST00000378842.7:c.803C>T	ENSP00000368119.3:p.Thr268Ile
ENST00000450095.6:c.476C>T	ENSP00000401956.2:p.Thr159Ile
ENST00000473506.6:c.*391C>T	ENSP00000432839.2:n.*391C>T
ENST00000489643.6:n.883C>T
ENST00000554085.5:c.*547C>T	ENSP00000450419.1:n.*547C>T
ENST00000554550.5:c.*423C>T	ENSP00000451435.1:n.*423C>T
ENST00000554638.5:n.1275C>T
ENST00000555020.5:n.1264C>T
ENST00000555086.5:n.807C>T
ENST00000555754.1:n.148C>T
ENST00000556244.1:c.790C>T
ENST00000556278.1:c.432+421C>T	ENSP00000451792.1:n.432+421C>T
ENST00000557706.5:n.1365C>T
NM_000155.3:c.803C>T	NP_000146.2:p.Thr268Ile
NM_001258332.1:c.476C>T	NP_001245261.1:p.Thr159Ile
NM_000155.4:c.803C>T MANE Select	NP_000146.2:p.Thr268Ile
NM_001258332.2:c.476C>T	NP_001245261.1:p.Thr159Ile