Canonical Allele Identifier: CA364137609
Gene: PRPH2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721920T>C , CM000668.2:g.42721920T>C GRCh38
NC_000006.11:g.42689658T>C , CM000668.1:g.42689658T>C GRCh37
NC_000006.10:g.42797636T>C NCBI36
NG_009176.1:g.5701A>G
NG_009176.2:g.5701A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.415A>G MANE Select ENSP00000230381.5:p.Lys139Glu
ENST00000230381.6:c.415A>G ENSP00000230381.5:p.Lys139Glu
NM_000322.4:c.415A>G NP_000313.2:p.Lys139Glu
XR_427834.2:n.1070A>G
XR_926295.1:n.1070A>G
XR_427834.4:n.1120A>G
XR_926295.3:n.1120A>G
NM_000322.5:c.415A>G MANE Select NP_000313.2:p.Lys139Glu