Canonical Allele Identifier: CA576533016

Gene: GNGT1

Linked Data

• dbSNP Id: rs1248899799
• gnomAD v2: 7-93538342-T-C
• gnomAD v3: 7-93909030-T-C
• gnomAD v4: 7-93909030-T-C
• MyVariant Identifiers: chr7:g.93538342T>C (hg19) ; chr7:g.93909030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93909030T>C , CM000669.2:g.93909030T>C	GRCh38
NC_000007.13:g.93538342T>C , CM000669.1:g.93538342T>C	GRCh37
NC_000007.12:g.93376278T>C	NCBI36
NG_051196.1:g.7523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248572.10:c.97-1760T>C MANE Select	ENSP00000248572.5:n.97-1760T>C
ENST00000248572.9:c.97-1760T>C	ENSP00000248572.5:n.97-1760T>C
ENST00000428834.1:c.97-453T>C	ENSP00000401781.1:n.97-453T>C
ENST00000429473.1:c.97-1760T>C	ENSP00000388777.1:n.97-1760T>C
ENST00000430875.1:c.97-453T>C	ENSP00000395756.1:n.97-453T>C
ENST00000455502.5:c.97-453T>C	ENSP00000395857.1:n.97-453T>C
NM_021955.3:c.97-1760T>C	NP_068774.1:n.97-1760T>C
NM_001329426.1:c.97-1760T>C	NP_001316355.1:n.97-1760T>C
NM_021955.4:c.97-1760T>C	NP_068774.1:n.97-1760T>C
NM_001329426.2:c.97-1760T>C	NP_001316355.1:n.97-1760T>C
NM_021955.5:c.97-1760T>C MANE Select	NP_068774.1:n.97-1760T>C