Canonical Allele Identifier: CA464403640

Gene: GALT

Linked Data

• ClinVar Variation Id: 1658517
• ClinVar RCV Id: RCV002175926
• dbSNP Id: rs1250931166
• gnomAD v2: 9-34649065-C-T
• MyVariant Identifiers: chr9:g.34649065C>T (hg19) ; chr9:g.34649068C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34649068C>T , CM000671.2:g.34649068C>T	GRCh38
NC_000009.11:g.34649065C>T , CM000671.1:g.34649065C>T	GRCh37
NC_000009.10:g.34639065C>T	NCBI36
NG_009029.1:g.7431C>T
NG_028966.1:g.1884C>T
NG_009029.2:g.7480C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*479C>T	ENSP00000509954.1:n.*479C>T
ENST00000378842.8:c.891C>T MANE Select	ENSP00000368119.4:p.Ser297=
ENST00000378842.7:c.891C>T	ENSP00000368119.3:p.Ser297=
ENST00000450095.6:c.564C>T	ENSP00000401956.2:p.Ser188=
ENST00000488412.2:n.147C>T
ENST00000489643.6:n.971C>T
ENST00000554550.5:c.*511C>T	ENSP00000451435.1:n.*511C>T
ENST00000554638.5:n.1363C>T
ENST00000555020.5:n.1352C>T
ENST00000555086.5:n.998C>T
ENST00000555754.1:n.339C>T
ENST00000556278.1:c.432+612C>T	ENSP00000451792.1:n.432+612C>T
ENST00000557706.5:n.1466C>T
NM_000155.3:c.891C>T	NP_000146.2:p.Ser297=
NM_001258332.1:c.564C>T	NP_001245261.1:p.Ser188=
NM_000155.4:c.891C>T MANE Select	NP_000146.2:p.Ser297=
NM_001258332.2:c.564C>T	NP_001245261.1:p.Ser188=