Canonical Allele Identifier: CA364138784
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42689979T>G (hg19) chr6:g.42722241T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722241T>G , CM000668.2:g.42722241T>G GRCh38
NC_000006.11:g.42689979T>G , CM000668.1:g.42689979T>G GRCh37
NC_000006.10:g.42797957T>G NCBI36
NG_009176.1:g.5380A>C
NG_009176.2:g.5380A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.94A>C MANE Select ENSP00000230381.5:p.Ile32Leu
ENST00000230381.6:c.94A>C ENSP00000230381.5:p.Ile32Leu
NM_000322.4:c.94A>C NP_000313.2:p.Ile32Leu
XR_427834.2:n.749A>C
XR_926295.1:n.749A>C
XR_427834.4:n.799A>C
XR_926295.3:n.799A>C
NM_000322.5:c.94A>C MANE Select NP_000313.2:p.Ile32Leu
Search 100 bp 5'
Search 100 bp 3'