Canonical Allele Identifier: CA2830536887

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.56964650C>T , CM000666.2:g.56964650C>T GRCh38
NC_000004.11:g.57830816C>T , CM000666.1:g.57830816C>T GRCh37
NC_000004.10:g.57525573C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000264230.5:c.1765-124G>A (NOA1) MANE Select ENSP00000264230.4:n.1765-124G>A
ENST00000640168.2:c.899-2006C>T (REST) ENSP00000490969.1:n.899-2006C>T
ENST00000640343.2:c.983-2006C>T (REST) ENSP00000492813.1:n.983-2006C>T
ENST00000264230.4:c.1765-124G>A (NOA1) ENSP00000264230.4:n.1765-124G>A
NM_032313.2:c.1765-124G>A (NOA1) NP_115689.1:n.1765-124G>A
NM_032313.3:c.1765-124G>A (NOA1) NP_115689.1:n.1765-124G>A
NM_032313.4:c.1765-124G>A (NOA1) MANE Select NP_115689.1:n.1765-124G>A