Canonical Allele Identifier: CA364138901

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42690033C>T (hg19) ; chr6:g.42722295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722295C>T , CM000668.2:g.42722295C>T	GRCh38
NC_000006.11:g.42690033C>T , CM000668.1:g.42690033C>T	GRCh37
NC_000006.10:g.42798011C>T	NCBI36
NG_009176.1:g.5326G>A
NG_009176.2:g.5326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.40G>A MANE Select	ENSP00000230381.5:p.Val14Ile
ENST00000230381.6:c.40G>A	ENSP00000230381.5:p.Val14Ile
NM_000322.4:c.40G>A	NP_000313.2:p.Val14Ile
XR_427834.2:n.695G>A
XR_926295.1:n.695G>A
XR_427834.4:n.745G>A
XR_926295.3:n.745G>A
NM_000322.5:c.40G>A MANE Select	NP_000313.2:p.Val14Ile