Canonical Allele Identifier: CA2619652382
Gene: GNS HGNC NCBI

Linked Data

gnomAD v4: 12-64729075-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64729075A>G , CM000674.2:g.64729075A>G GRCh38
NC_000012.11:g.65122855A>G , CM000674.1:g.65122855A>G GRCh37
NC_000012.10:g.63409122A>G NCBI36
NG_008955.1:g.35372T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258145.8:c.1099-18T>C MANE Select ENSP00000258145.3:n.1099-18T>C
ENST00000258145.7:c.1099-18T>C ENSP00000258145.3:n.1099-18T>C
ENST00000418919.6:c.931-18T>C ENSP00000413130.2:n.931-18T>C
ENST00000537823.1:n.80T>C
ENST00000540196.5:c.557-5962T>C
ENST00000540883.1:n.144T>C
ENST00000541781.5:n.1154-18T>C
ENST00000542058.5:c.1039-18T>C ENSP00000444819.1:n.1039-18T>C
ENST00000543646.5:c.1195-18T>C ENSP00000438497.1:n.1195-18T>C
NM_002076.3:c.1099-18T>C NP_002067.1:n.1099-18T>C
NM_002076.4:c.1099-18T>C MANE Select NP_002067.1:n.1099-18T>C
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