Canonical Allele Identifier: CA2508835972
Gene: GNGT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93909091G>A , CM000669.2:g.93909091G>A GRCh38
NC_000007.13:g.93538403G>A , CM000669.1:g.93538403G>A GRCh37
NC_000007.12:g.93376339G>A NCBI36
NG_051196.1:g.7584G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000248572.10:c.97-1699G>A MANE Select ENSP00000248572.5:n.97-1699G>A
ENST00000248572.9:c.97-1699G>A ENSP00000248572.5:n.97-1699G>A
ENST00000428834.1:c.97-392G>A ENSP00000401781.1:n.97-392G>A
ENST00000429473.1:c.97-1699G>A ENSP00000388777.1:n.97-1699G>A
ENST00000430875.1:c.97-392G>A ENSP00000395756.1:n.97-392G>A
ENST00000455502.5:c.97-392G>A ENSP00000395857.1:n.97-392G>A
NM_021955.3:c.97-1699G>A NP_068774.1:n.97-1699G>A
NM_001329426.1:c.97-1699G>A NP_001316355.1:n.97-1699G>A
NM_021955.4:c.97-1699G>A NP_068774.1:n.97-1699G>A
NM_001329426.2:c.97-1699G>A NP_001316355.1:n.97-1699G>A
NM_021955.5:c.97-1699G>A MANE Select NP_068774.1:n.97-1699G>A