Canonical Allele Identifier: CA7238798

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• ClinVar Variation Id: 313842
• ClinVar RCV Id: RCV000342637 ; RCV000993746 ; RCV001243727 ; RCV001753776 ; RCV001833459 ; RCV003324525
• dbSNP Id: rs750636662
• ExAC: 14:68195950 G / A
• gnomAD v2: 14-68195950-G-A
• gnomAD v3: 14-67729233-G-A
• gnomAD v4: 14-67729233-G-A
• MyVariant Identifiers: chr14:g.68195950G>A (hg19) ; chr14:g.67729233G>A (hg38)
• PubMed: PMID:16269441 ; PMID:19011012 ; PMID:21151602 ; PMID:25412400 ; PMID:25494902

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729233G>A , CM000676.2:g.67729233G>A	GRCh38
NC_000014.8:g.68195950G>A , CM000676.1:g.68195950G>A	GRCh37
NC_000014.7:g.67265703G>A	NCBI36
NG_008321.1:g.32348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.701G>A (RDH12) MANE Select	ENSP00000449079.1:p.Arg234His
ENST00000267502.3:c.701G>A (RDH12)	ENSP00000267502.3:p.Arg234His
ENST00000394455.6:n.3266C>T (ZFYVE26)
ENST00000551171.5:c.701G>A (RDH12)	ENSP00000449079.1:p.Arg234His
ENST00000552873.1:n.70G>A (RDH12)
NM_152443.2:c.701G>A (RDH12)	NP_689656.2:p.Arg234His
XM_017020925.2:c.1313-5962G>A (GPHN)	XP_016876414.1:n.1313-5962G>A
XM_017021125.1:c.*509C>T (ZFYVE26)	XP_016876614.1:n.*509C>T
NM_152443.3:c.701G>A (RDH12) MANE Select	NP_689656.2:p.Arg234His