Canonical Allele Identifier: CA364138739
Gene: PRPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722219A>T , CM000668.2:g.42722219A>T GRCh38
NC_000006.11:g.42689957A>T , CM000668.1:g.42689957A>T GRCh37
NC_000006.10:g.42797935A>T NCBI36
NG_009176.1:g.5402T>A
NG_009176.2:g.5402T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.116T>A MANE Select ENSP00000230381.5:p.Leu39Gln
ENST00000230381.6:c.116T>A ENSP00000230381.5:p.Leu39Gln
NM_000322.4:c.116T>A NP_000313.2:p.Leu39Gln
XR_427834.2:n.771T>A
XR_926295.1:n.771T>A
XR_427834.4:n.821T>A
XR_926295.3:n.821T>A
NM_000322.5:c.116T>A MANE Select NP_000313.2:p.Leu39Gln