Canonical Allele Identifier: CA174723

Gene: GNGT1

Linked Data

• ClinVar Variation Id: 161753
• ClinVar RCV Id: RCV000149289
• dbSNP Id: rs193921133
• gnomAD v4: 7-93906843-G-A
• COSMIC: COSM1179577
• MyVariant Identifiers: chr7:g.93536155G>A (hg19) ; chr7:g.93906843G>A (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93906843G>A , CM000669.2:g.93906843G>A	GRCh38
NC_000007.13:g.93536155G>A , CM000669.1:g.93536155G>A	GRCh37
NC_000007.12:g.93374091G>A	NCBI36
NG_051196.1:g.5336G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248572.10:c.96+1G>A MANE Select	ENSP00000248572.5:n.96+1G>A
ENST00000248572.9:c.96+1G>A	ENSP00000248572.5:n.96+1G>A
ENST00000428834.1:c.96+1G>A	ENSP00000401781.1:n.96+1G>A
ENST00000429473.1:c.96+1G>A	ENSP00000388777.1:n.96+1G>A
ENST00000430875.1:c.96+1G>A	ENSP00000395756.1:n.96+1G>A
ENST00000455502.5:c.96+1G>A	ENSP00000395857.1:n.96+1G>A
NM_021955.3:c.96+1G>A	NP_068774.1:n.96+1G>A
NM_001329426.1:c.96+1G>A	NP_001316355.1:n.96+1G>A
NM_021955.4:c.96+1G>A	NP_068774.1:n.96+1G>A
NM_001329426.2:c.96+1G>A	NP_001316355.1:n.96+1G>A
NM_021955.5:c.96+1G>A MANE Select	NP_068774.1:n.96+1G>A