Canonical Allele Identifier: CA1624187234
Gene: PRPH2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722384A= , CM000668.2:g.42722384A= GRCh38
NC_000006.11:g.42690122A= , CM000668.1:g.42690122A= GRCh37
NC_000006.10:g.42798100A= NCBI36
NG_009176.1:g.5237T=
NG_009176.2:g.5237T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-50T= MANE Select ENSP00000230381.5:n.-50T=
ENST00000230381.6:c.-50T= ENSP00000230381.5:n.-50T=
NM_000322.4:c.-50T= NP_000313.2:n.-50T=
XR_427834.2:n.606T=
XR_926295.1:n.606T=
XR_427834.4:n.656T=
XR_926295.3:n.656T=
NM_000322.5:c.-50T= MANE Select NP_000313.2:n.-50T=
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