Canonical Allele Identifier: CA9279380
Gene: C19orf44 HGNC NCBI
CHERP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.16520424C>T , CM000681.2:g.16520424C>T GRCh38
NC_000019.9:g.16631235C>T , CM000681.1:g.16631235C>T GRCh37
NC_000019.8:g.16492235C>T NCBI36
NG_031959.2:g.112781G>A , LRG_422:g.112781G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221671.8:c.*371C>T (C19orf44) MANE Select ENSP00000221671.2:n.*371C>T
ENST00000546361.7:c.2285G>A (CHERP) MANE Select ENSP00000439856.2:p.Gly762Asp
ENST00000198939.6:c.2318G>A (CHERP) ENSP00000198939.6:p.Gly773Asp
ENST00000221671.7:c.*371C>T (C19orf44) ENSP00000221671.2:n.*371C>T
ENST00000409035.1:c.*194-1072G>A ENSP00000386951.2:n.*194-1072G>A
ENST00000544299.5:n.1087G>A (CHERP)
ENST00000546361.6:c.2285G>A (CHERP) ENSP00000439856.2:p.Gly762Asp
ENST00000593380.1:c.*435C>T (C19orf44) ENSP00000472255.1:n.*435C>T
ENST00000600432.1:n.132G>A (CHERP)
ENST00000601109.1:c.520C>T (C19orf44) ENSP00000469749.1:n.520C>T
NM_006387.5:c.2285G>A (CHERP) NP_006378.3:p.Gly762Asp
NM_032207.3:c.*371C>T (C19orf44) NP_115583.1:n.*371C>T
XM_006722920.4:c.*371C>T (C19orf44) XP_006722983.1:n.*371C>T
XR_936210.3:n.2414C>T (C19orf44)
NM_006387.6:c.2285G>A (CHERP) MANE Select NP_006378.3:p.Gly762Asp
NM_032207.4:c.*371C>T (C19orf44) MANE Select NP_115583.1:n.*371C>T