Canonical Allele Identifier: CA2475633797
Gene: SAMD13 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.84327290G>C , CM000663.2:g.84327290G>C GRCh38
NC_000001.10:g.84792973G>C , CM000663.1:g.84792973G>C GRCh37
NC_000001.9:g.84565561G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000394834.8:c.165+1542G>C MANE Select ENSP00000378311.3:n.165+1542G>C
ENST00000370668.7:c.165+1542G>C ENSP00000359702.3:n.165+1542G>C
ENST00000370669.5:c.165+1542G>C ENSP00000359703.1:n.165+1542G>C
ENST00000370670.2:c.165+1542G>C ENSP00000359704.2:n.165+1542G>C
ENST00000370671.7:c.225+1542G>C ENSP00000359705.3:n.225+1542G>C
ENST00000370673.7:c.207+1542G>C ENSP00000359707.3:n.207+1542G>C
ENST00000394834.7:c.165+1542G>C ENSP00000378311.3:n.165+1542G>C
ENST00000454967.1:c.69+1542G>C ENSP00000391978.1:n.69+1542G>C
NM_001010971.2:c.207+1542G>C NP_001010971.1:n.207+1542G>C
NM_001134663.1:c.165+1542G>C NP_001128135.1:n.165+1542G>C
NM_001134664.1:c.165+1542G>C NP_001128136.1:n.165+1542G>C
XM_011540758.1:c.183+1542G>C XP_011539060.1:n.183+1542G>C
XM_011540759.1:c.108+1542G>C XP_011539061.1:n.108+1542G>C
XM_011540760.1:c.108+1542G>C XP_011539062.1:n.108+1542G>C
XM_011540761.1:c.108+1542G>C XP_011539063.1:n.108+1542G>C
XM_017000377.2:c.225+1542G>C XP_016855866.1:n.225+1542G>C
NM_001010971.3:c.207+1542G>C NP_001010971.1:n.207+1542G>C
NM_001134663.2:c.165+1542G>C MANE Select NP_001128135.1:n.165+1542G>C
NM_001134664.2:c.165+1542G>C NP_001128136.1:n.165+1542G>C