Canonical Allele Identifier: CA843958204

Gene: GNGT1

Linked Data

• dbSNP Id: rs180273
• MyVariant Identifiers: chr7:g.93538295A>T (hg19) ; chr7:g.93908983A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93908983A>T , CM000669.2:g.93908983A>T	GRCh38
NC_000007.13:g.93538295A>T , CM000669.1:g.93538295A>T	GRCh37
NC_000007.12:g.93376231A>T	NCBI36
NG_051196.1:g.7476A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248572.10:c.97-1807A>T MANE Select	ENSP00000248572.5:n.97-1807A>T
ENST00000248572.9:c.97-1807A>T	ENSP00000248572.5:n.97-1807A>T
ENST00000428834.1:c.97-500A>T	ENSP00000401781.1:n.97-500A>T
ENST00000429473.1:c.97-1807A>T	ENSP00000388777.1:n.97-1807A>T
ENST00000430875.1:c.97-500A>T	ENSP00000395756.1:n.97-500A>T
ENST00000455502.5:c.97-500A>T	ENSP00000395857.1:n.97-500A>T
NM_021955.3:c.97-1807A>T	NP_068774.1:n.97-1807A>T
NM_001329426.1:c.97-1807A>T	NP_001316355.1:n.97-1807A>T
NM_021955.4:c.97-1807A>T	NP_068774.1:n.97-1807A>T
NM_001329426.2:c.97-1807A>T	NP_001316355.1:n.97-1807A>T
NM_021955.5:c.97-1807A>T MANE Select	NP_068774.1:n.97-1807A>T