Canonical Allele Identifier: CA464403395

Gene: GALT

Linked Data

• dbSNP Id: rs1821182301
• gnomAD v3: 9-34648999-T-C
• gnomAD v4: 9-34648999-T-C
• MyVariant Identifiers: chr9:g.34648996T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648999T>C , CM000671.2:g.34648999T>C	GRCh38
NC_000009.11:g.34648996T>C , CM000671.1:g.34648996T>C	GRCh37
NC_000009.10:g.34638996T>C	NCBI36
NG_009029.1:g.7362T>C
NG_028966.1:g.1815T>C
NG_009029.2:g.7411T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*410T>C	ENSP00000509954.1:n.*410T>C
ENST00000378842.8:c.822T>C MANE Select	ENSP00000368119.4:p.Asp274=
ENST00000378842.7:c.822T>C	ENSP00000368119.3:p.Asp274=
ENST00000450095.6:c.495T>C	ENSP00000401956.2:p.Asp165=
ENST00000488412.2:n.78T>C
ENST00000489643.6:n.902T>C
ENST00000554085.5:c.*566T>C	ENSP00000450419.1:n.*566T>C
ENST00000554550.5:c.*442T>C	ENSP00000451435.1:n.*442T>C
ENST00000554638.5:n.1294T>C
ENST00000555020.5:n.1283T>C
ENST00000555086.5:n.929T>C
ENST00000555754.1:n.270T>C
ENST00000556278.1:c.432+543T>C	ENSP00000451792.1:n.432+543T>C
ENST00000557706.5:n.1397T>C
NM_000155.3:c.822T>C	NP_000146.2:p.Asp274=
NM_001258332.1:c.495T>C	NP_001245261.1:p.Asp165=
NM_000155.4:c.822T>C MANE Select	NP_000146.2:p.Asp274=
NM_001258332.2:c.495T>C	NP_001245261.1:p.Asp165=