Canonical Allele Identifier: CA162363492

Gene: GNGT1

Linked Data

• dbSNP Id: rs770625304
• gnomAD v3: 7-93908998-C-G
• gnomAD v4: 7-93908998-C-G
• MyVariant Identifiers: chr7:g.93538310C>G (hg19) ; chr7:g.93908998C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93908998C>G , CM000669.2:g.93908998C>G	GRCh38
NC_000007.13:g.93538310C>G , CM000669.1:g.93538310C>G	GRCh37
NC_000007.12:g.93376246C>G	NCBI36
NG_051196.1:g.7491C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248572.10:c.97-1792C>G MANE Select	ENSP00000248572.5:n.97-1792C>G
ENST00000248572.9:c.97-1792C>G	ENSP00000248572.5:n.97-1792C>G
ENST00000428834.1:c.97-485C>G	ENSP00000401781.1:n.97-485C>G
ENST00000429473.1:c.97-1792C>G	ENSP00000388777.1:n.97-1792C>G
ENST00000430875.1:c.97-485C>G	ENSP00000395756.1:n.97-485C>G
ENST00000455502.5:c.97-485C>G	ENSP00000395857.1:n.97-485C>G
NM_021955.3:c.97-1792C>G	NP_068774.1:n.97-1792C>G
NM_001329426.1:c.97-1792C>G	NP_001316355.1:n.97-1792C>G
NM_021955.4:c.97-1792C>G	NP_068774.1:n.97-1792C>G
NM_001329426.2:c.97-1792C>G	NP_001316355.1:n.97-1792C>G
NM_021955.5:c.97-1792C>G MANE Select	NP_068774.1:n.97-1792C>G