Canonical Allele Identifier: CA305961240
Gene: C19orf44 HGNC NCBI
CHERP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.16520850C>T , CM000681.2:g.16520850C>T GRCh38
NC_000019.9:g.16631661C>T , CM000681.1:g.16631661C>T GRCh37
NC_000019.8:g.16492661C>T NCBI36
NG_031959.2:g.112355G>A , LRG_422:g.112355G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000221671.8:c.*797C>T (C19orf44) MANE Select ENSP00000221671.2:n.*797C>T
ENST00000546361.7:c.2177G>A (CHERP) MANE Select ENSP00000439856.2:p.Arg726Lys
ENST00000198939.6:c.2210G>A (CHERP) ENSP00000198939.6:p.Arg737Lys
ENST00000221671.7:c.*797C>T (C19orf44) ENSP00000221671.2:n.*797C>T
ENST00000409035.1:c.*194-1498G>A ENSP00000386951.2:n.*194-1498G>A
ENST00000544299.5:n.979G>A (CHERP)
ENST00000546361.6:c.2177G>A (CHERP) ENSP00000439856.2:p.Arg726Lys
ENST00000593380.1:c.*861C>T (C19orf44) ENSP00000472255.1:n.*861C>T
ENST00000600432.1:n.24G>A (CHERP)
NM_006387.5:c.2177G>A (CHERP) NP_006378.3:p.Arg726Lys
NM_032207.3:c.*797C>T (C19orf44) NP_115583.1:n.*797C>T
XM_006722920.4:c.*797C>T (C19orf44) XP_006722983.1:n.*797C>T
XR_936210.3:n.2840C>T (C19orf44)
NM_006387.6:c.2177G>A (CHERP) MANE Select NP_006378.3:p.Arg726Lys
NM_032207.4:c.*797C>T (C19orf44) MANE Select NP_115583.1:n.*797C>T