Canonical Allele Identifier: CA364137603
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42721918-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42721918C>A , CM000668.2:g.42721918C>A GRCh38
NC_000006.11:g.42689656C>A , CM000668.1:g.42689656C>A GRCh37
NC_000006.10:g.42797634C>A NCBI36
NG_009176.1:g.5703G>T
NG_009176.2:g.5703G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.417G>T MANE Select ENSP00000230381.5:p.Lys139Asn
ENST00000230381.6:c.417G>T ENSP00000230381.5:p.Lys139Asn
NM_000322.4:c.417G>T NP_000313.2:p.Lys139Asn
XR_427834.2:n.1072G>T
XR_926295.1:n.1072G>T
XR_427834.4:n.1122G>T
XR_926295.3:n.1122G>T
NM_000322.5:c.417G>T MANE Select NP_000313.2:p.Lys139Asn