Canonical Allele Identifier: CA373283429

Gene: GALT

Linked Data

• gnomAD v4: 9-34648783-G-T
• MyVariant Identifiers: chr9:g.34648780G>T (hg19) ; chr9:g.34648783G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648783G>T , CM000671.2:g.34648783G>T	GRCh38
NC_000009.11:g.34648780G>T , CM000671.1:g.34648780G>T	GRCh37
NC_000009.10:g.34638780G>T	NCBI36
NG_009029.1:g.7146G>T
NG_028966.1:g.1599G>T
NG_009029.2:g.7195G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*297G>T	ENSP00000509954.1:n.*297G>T
ENST00000378842.8:c.709G>T MANE Select	ENSP00000368119.4:p.Glu237Ter
ENST00000378842.7:c.709G>T	ENSP00000368119.3:p.Glu237Ter
ENST00000450095.6:c.382G>T	ENSP00000401956.2:p.Glu128Ter
ENST00000473506.6:c.*297G>T	ENSP00000432839.2:n.*297G>T
ENST00000473529.5:n.868G>T
ENST00000487381.5:n.1399G>T
ENST00000489643.6:n.789G>T
ENST00000554085.5:c.*453G>T	ENSP00000450419.1:n.*453G>T
ENST00000554550.5:c.*329G>T	ENSP00000451435.1:n.*329G>T
ENST00000554638.5:n.1181G>T
ENST00000555020.5:n.1170G>T
ENST00000555086.5:n.713G>T
ENST00000555754.1:n.54G>T
ENST00000556244.1:c.696G>T
ENST00000556278.1:c.432+327G>T	ENSP00000451792.1:n.432+327G>T
ENST00000557706.5:n.1271G>T
NM_000155.3:c.709G>T	NP_000146.2:p.Glu237Ter
NM_001258332.1:c.382G>T	NP_001245261.1:p.Glu128Ter
NM_000155.4:c.709G>T MANE Select	NP_000146.2:p.Glu237Ter
NM_001258332.2:c.382G>T	NP_001245261.1:p.Glu128Ter