Canonical Allele Identifier: CA10603471
Community Standard Title: NM_144773.4(PROKR2):c.458+1G>A
Gene: PROKR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.5313911C>T , CM000682.2:g.5313911C>T GRCh38
NC_000020.10:g.5294557C>T , CM000682.1:g.5294557C>T GRCh37
NC_000020.9:g.5242557C>T NCBI36
NG_008132.1:g.5459G>A
NG_008132.2:g.5459G>A

Transcript Alleles

HGVS Amino-acid Change
NM_144773.4:c.458+1G>A MANE Select NP_658986.1:n.458+1G>A
ENST00000678254.1:c.458+1G>A MANE Select ENSP00000504128.1:n.458+1G>A
NM_144773.2:c.458+1G>A NP_658986.1:n.458+1G>A
NM_144773.3:c.458+1G>A NP_658986.1:n.458+1G>A
ENST00000217270.3:c.458+1G>A ENSP00000217270.3:n.458+1G>A
ENST00000217270.4:c.458+1G>A ENSP00000217270.3:n.458+1G>A
ENST00000678059.1:c.350+1G>A ENSP00000503366.1:n.350+1G>A
XM_005260663.2:c.458+1G>A XP_005260720.1:n.458+1G>A
XM_011529159.1:c.350+1G>A XP_011527461.1:n.350+1G>A
XM_017027646.1:c.458+1G>A XP_016883135.1:n.458+1G>A