Canonical Allele Identifier: CA373284037

Gene: GALT

Linked Data

• COSMIC: COSM487404
• MyVariant Identifiers: chr9:g.34648884G>T (hg19) ; chr9:g.34648887G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648887G>T , CM000671.2:g.34648887G>T	GRCh38
NC_000009.11:g.34648884G>T , CM000671.1:g.34648884G>T	GRCh37
NC_000009.10:g.34638884G>T	NCBI36
NG_009029.1:g.7250G>T
NG_028966.1:g.1703G>T
NG_009029.2:g.7299G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*401G>T	ENSP00000509954.1:n.*401G>T
ENST00000378842.8:c.813G>T MANE Select	ENSP00000368119.4:p.Glu271Asp
ENST00000378842.7:c.813G>T	ENSP00000368119.3:p.Glu271Asp
ENST00000450095.6:c.486G>T	ENSP00000401956.2:p.Glu162Asp
ENST00000473506.6:c.*401G>T	ENSP00000432839.2:n.*401G>T
ENST00000489643.6:n.893G>T
ENST00000554085.5:c.*557G>T	ENSP00000450419.1:n.*557G>T
ENST00000554550.5:c.*433G>T	ENSP00000451435.1:n.*433G>T
ENST00000554638.5:n.1285G>T
ENST00000555020.5:n.1274G>T
ENST00000555086.5:n.817G>T
ENST00000555754.1:n.158G>T
ENST00000556244.1:c.800G>T
ENST00000556278.1:c.432+431G>T	ENSP00000451792.1:n.432+431G>T
ENST00000557706.5:n.1375G>T
NM_000155.3:c.813G>T	NP_000146.2:p.Glu271Asp
NM_001258332.1:c.486G>T	NP_001245261.1:p.Glu162Asp
NM_000155.4:c.813G>T MANE Select	NP_000146.2:p.Glu271Asp
NM_001258332.2:c.486G>T	NP_001245261.1:p.Glu162Asp