Canonical Allele Identifier: CA605383552
Community Standard Title: NM_002076.4(GNS):c.1309-16T>C
Gene: GNS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.64721721A>G , CM000674.2:g.64721721A>G GRCh38
NC_000012.11:g.65115501A>G , CM000674.1:g.65115501A>G GRCh37
NC_000012.10:g.63401768A>G NCBI36
NG_008955.1:g.42726T>C

Transcript Alleles

HGVS Amino-acid Change
NM_002076.4:c.1309-16T>C MANE Select NP_002067.1:n.1309-16T>C
ENST00000258145.8:c.1309-16T>C MANE Select ENSP00000258145.3:n.1309-16T>C
NM_002076.3:c.1309-16T>C NP_002067.1:n.1309-16T>C
ENST00000258145.7:c.1309-16T>C ENSP00000258145.3:n.1309-16T>C
ENST00000418919.6:c.1141-16T>C ENSP00000413130.2:n.1141-16T>C
ENST00000537823.1:n.308-16T>C
ENST00000540196.5:c.665-16T>C
ENST00000541781.5:n.1364-16T>C
ENST00000542058.5:c.1249-16T>C ENSP00000444819.1:n.1249-16T>C
ENST00000543646.5:c.1405-16T>C ENSP00000438497.1:n.1405-16T>C