Canonical Allele Identifier: CA364138647
Gene: PRPH2 HGNC NCBI

Linked Data

gnomAD v4: 6-42722178-T-C
MyVariant Identifiers: chr6:g.42689916T>C (hg19) chr6:g.42722178T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722178T>C , CM000668.2:g.42722178T>C GRCh38
NC_000006.11:g.42689916T>C , CM000668.1:g.42689916T>C GRCh37
NC_000006.10:g.42797894T>C NCBI36
NG_009176.1:g.5443A>G
NG_009176.2:g.5443A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.157A>G MANE Select ENSP00000230381.5:p.Asn53Asp
ENST00000230381.6:c.157A>G ENSP00000230381.5:p.Asn53Asp
NM_000322.4:c.157A>G NP_000313.2:p.Asn53Asp
XR_427834.2:n.812A>G
XR_926295.1:n.812A>G
XR_427834.4:n.862A>G
XR_926295.3:n.862A>G
NM_000322.5:c.157A>G MANE Select NP_000313.2:p.Asn53Asp
Search 100 bp 5'
Search 100 bp 3'