Canonical Allele Identifier: CA2342699531
Community Standard Title: NM_015629.4(PRPF31):c.615C= (p.Tyr205=)
Gene: PRPF31 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54123836C= , CM000681.2:g.54123836C= GRCh38
NC_000019.8:g.59319027C= NCBI36
NG_009759.1:g.13426C=

Transcript Alleles

HGVS Amino-acid Change
NM_015629.4:c.615C= MANE Select NP_056444.3:p.Tyr205=
ENST00000321030.9:c.615C= MANE Select ENSP00000324122.4:p.Tyr205=
NM_015629.3:c.615C= NP_056444.3:p.Tyr205=
ENST00000321030.8:c.615C= ENSP00000324122.4:p.Tyr205=
ENST00000391755.1:c.615C= ENSP00000375635.1:p.Tyr205=
ENST00000419967.5:c.615C= ENSP00000405166.2:p.Tyr205=
ENST00000445124.5:c.615C= ENSP00000408980.1:p.Tyr205=
ENST00000445811.5:c.615C= ENSP00000395894.1:p.Tyr205=
ENST00000447810.5:c.615C= ENSP00000395089.1:p.Tyr205=
ENST00000466404.5:n.485C=
ENST00000498612.1:n.398C=
XM_006723137.2:c.615C= XP_006723200.1:p.Tyr205=
XM_006723137.4:c.615C= XP_006723200.1:p.Tyr205=
XR_002958293.1:n.745C=
XR_935789.1:n.664C=
XR_935789.3:n.676C=