Canonical Allele Identifier: CA7238662
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 860840
ClinVar RCV Id: RCV001067223
dbSNP Id: rs148334092
ExAC: 14:68191929 G / A
gnomAD v2: 14-68191929-G-A
gnomAD v3: 14-67725212-G-A
gnomAD v4: 14-67725212-G-A
MyVariant Identifiers: chr14:g.68191929G>A (hg19) chr14:g.67725212G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725212G>A , CM000676.2:g.67725212G>A GRCh38
NC_000014.8:g.68191929G>A , CM000676.1:g.68191929G>A GRCh37
NC_000014.7:g.67261682G>A NCBI36
NG_008321.1:g.28327G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.301G>A (RDH12) MANE Select ENSP00000449079.1:p.Asp101Asn
ENST00000267502.3:c.301G>A (RDH12) ENSP00000267502.3:p.Asp101Asn
ENST00000551171.5:c.301G>A (RDH12) ENSP00000449079.1:p.Asp101Asn
NM_152443.2:c.301G>A (RDH12) NP_689656.2:p.Asp101Asn
XM_017020925.2:c.1313-9983G>A (GPHN) XP_016876414.1:n.1313-9983G>A
NM_152443.3:c.301G>A (RDH12) MANE Select NP_689656.2:p.Asp101Asn
Search 100 bp 5'
Search 100 bp 3'