Canonical Allele Identifier: CA1624187214
Gene: PRPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722350T= , CM000668.2:g.42722350T= GRCh38
NC_000006.11:g.42690088T= , CM000668.1:g.42690088T= GRCh37
NC_000006.10:g.42798066T= NCBI36
NG_009176.1:g.5271A=
NG_009176.2:g.5271A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-16A= MANE Select ENSP00000230381.5:n.-16A=
ENST00000230381.6:c.-16A= ENSP00000230381.5:n.-16A=
NM_000322.4:c.-16A= NP_000313.2:n.-16A=
XR_427834.2:n.640A=
XR_926295.1:n.640A=
XR_427834.4:n.690A=
XR_926295.3:n.690A=
NM_000322.5:c.-16A= MANE Select NP_000313.2:n.-16A=