Canonical Allele Identifier: CA2838024435
Community Standard Title: NM_001394206.1(SNORC):c.*2043A>C
Gene: SNORC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.232878399A>C , CM000664.2:g.232878399A>C GRCh38
NC_000002.11:g.233743109A>C , CM000664.1:g.233743109A>C GRCh37
NC_000002.10:g.233451353A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001394206.1:c.*2043A>C MANE Select NP_001381135.1:n.*2043A>C
ENST00000331342.5:c.*2043A>C MANE Select ENSP00000333208.2:n.*2043A>C
NM_001346120.1:c.*2043A>C NP_001333049.1:n.*2043A>C
NM_001346120.3:c.*2043A>C NP_001333049.2:n.*2043A>C
NM_001346121.1:c.*2043A>C NP_001333050.1:n.*2043A>C
NM_001346121.2:c.*2043A>C NP_001333050.2:n.*2043A>C
NM_001346122.1:c.*2043A>C NP_001333051.1:n.*2043A>C
NM_001346122.2:c.*2043A>C NP_001333051.1:n.*2043A>C
NM_001394207.1:c.*2043A>C NP_001381136.1:n.*2043A>C
NM_206895.2:c.*2043A>C NP_996778.1:n.*2043A>C
NM_206895.3:c.*2043A>C NP_996778.1:n.*2043A>C
NR_144371.1:n.2532A>C
NR_144371.2:n.2548A>C
NR_144372.1:n.2496A>C
NR_144372.2:n.2444A>C
ENST00000467665.1:n.2477A>C
ENST00000481155.1:n.404-53A>C
XM_005246548.3:c.*92-53A>C XP_005246605.2:n.*92-53A>C
XM_017004082.2:c.*2043A>C XP_016859571.1:n.*2043A>C
XM_017004083.2:c.*2043A>C XP_016859572.1:n.*2043A>C
XM_017004084.2:c.*2043A>C XP_016859573.1:n.*2043A>C
XM_024452882.1:c.*2043A>C XP_024308650.1:n.*2043A>C