Canonical Allele Identifier: CA364138967
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42690062A>T (hg19) chr6:g.42722324A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722324A>T , CM000668.2:g.42722324A>T GRCh38
NC_000006.11:g.42690062A>T , CM000668.1:g.42690062A>T GRCh37
NC_000006.10:g.42798040A>T NCBI36
NG_009176.1:g.5297T>A
NG_009176.2:g.5297T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.11T>A MANE Select ENSP00000230381.5:p.Leu4Gln
ENST00000230381.6:c.11T>A ENSP00000230381.5:p.Leu4Gln
NM_000322.4:c.11T>A NP_000313.2:p.Leu4Gln
XR_427834.2:n.666T>A
XR_926295.1:n.666T>A
XR_427834.4:n.716T>A
XR_926295.3:n.716T>A
NM_000322.5:c.11T>A MANE Select NP_000313.2:p.Leu4Gln
Search 100 bp 5'
Search 100 bp 3'