Canonical Allele Identifier: CA364138710
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42689945A>C (hg19) chr6:g.42722207A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722207A>C , CM000668.2:g.42722207A>C GRCh38
NC_000006.11:g.42689945A>C , CM000668.1:g.42689945A>C GRCh37
NC_000006.10:g.42797923A>C NCBI36
NG_009176.1:g.5414T>G
NG_009176.2:g.5414T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.128T>G MANE Select ENSP00000230381.5:p.Ile43Ser
ENST00000230381.6:c.128T>G ENSP00000230381.5:p.Ile43Ser
NM_000322.4:c.128T>G NP_000313.2:p.Ile43Ser
XR_427834.2:n.783T>G
XR_926295.1:n.783T>G
XR_427834.4:n.833T>G
XR_926295.3:n.833T>G
NM_000322.5:c.128T>G MANE Select NP_000313.2:p.Ile43Ser
Search 100 bp 5'
Search 100 bp 3'