Canonical Allele Identifier: CA373284036

Gene: GALT

Linked Data

• ClinVar Variation Id: 2136758
• ClinVar RCV Id: RCV003062205
• dbSNP Id: rs1262475195
• gnomAD v3: 9-34648887-G-C
• gnomAD v4: 9-34648887-G-C
• MyVariant Identifiers: chr9:g.34648884G>C (hg19) ; chr9:g.34648887G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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