Canonical Allele Identifier: CA364138903
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs745427463
gnomAD v4: 6-42722297-C-A
MyVariant Identifiers: chr6:g.42690035C>A (hg19) chr6:g.42722297C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722297C>A , CM000668.2:g.42722297C>A GRCh38
NC_000006.11:g.42690035C>A , CM000668.1:g.42690035C>A GRCh37
NC_000006.10:g.42798013C>A NCBI36
NG_009176.1:g.5324G>T
NG_009176.2:g.5324G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.38G>T MANE Select ENSP00000230381.5:p.Arg13Leu
ENST00000230381.6:c.38G>T ENSP00000230381.5:p.Arg13Leu
NM_000322.4:c.38G>T NP_000313.2:p.Arg13Leu
XR_427834.2:n.693G>T
XR_926295.1:n.693G>T
XR_427834.4:n.743G>T
XR_926295.3:n.743G>T
NM_000322.5:c.38G>T MANE Select NP_000313.2:p.Arg13Leu
Search 100 bp 5'
Search 100 bp 3'