Canonical Allele Identifier: CA843958184
Gene: GNGT1 HGNC NCBI

Linked Data

dbSNP Id: rs1249510162
gnomAD v3: 7-93908938-A-G
gnomAD v4: 7-93908938-A-G
MyVariant Identifiers: chr7:g.93538250A>G (hg19) chr7:g.93908938A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93908938A>G , CM000669.2:g.93908938A>G GRCh38
NC_000007.13:g.93538250A>G , CM000669.1:g.93538250A>G GRCh37
NC_000007.12:g.93376186A>G NCBI36
NG_051196.1:g.7431A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000248572.10:c.97-1852A>G MANE Select ENSP00000248572.5:n.97-1852A>G
ENST00000248572.9:c.97-1852A>G ENSP00000248572.5:n.97-1852A>G
ENST00000428834.1:c.97-545A>G ENSP00000401781.1:n.97-545A>G
ENST00000429473.1:c.97-1852A>G ENSP00000388777.1:n.97-1852A>G
ENST00000430875.1:c.97-545A>G ENSP00000395756.1:n.97-545A>G
ENST00000455502.5:c.97-545A>G ENSP00000395857.1:n.97-545A>G
NM_021955.3:c.97-1852A>G NP_068774.1:n.97-1852A>G
NM_001329426.1:c.97-1852A>G NP_001316355.1:n.97-1852A>G
NM_021955.4:c.97-1852A>G NP_068774.1:n.97-1852A>G
NM_001329426.2:c.97-1852A>G NP_001316355.1:n.97-1852A>G
NM_021955.5:c.97-1852A>G MANE Select NP_068774.1:n.97-1852A>G
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