Canonical Allele Identifier: CA252085
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 2052
ClinVar RCV Id: RCV000002133
dbSNP Id: rs104894475
MyVariant Identifiers: chr14:g.68193700C>A (hg19) chr14:g.67726983C>A (hg38)
PubMed: PMID:15322982
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67726983C>A , CM000676.2:g.67726983C>A GRCh38
NC_000014.8:g.68193700C>A , CM000676.1:g.68193700C>A GRCh37
NC_000014.7:g.67263453C>A NCBI36
NG_008321.1:g.30098C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.451C>A (RDH12) MANE Select ENSP00000449079.1:p.His151Asn
ENST00000267502.3:c.451C>A (RDH12) ENSP00000267502.3:p.His151Asn
ENST00000551171.5:c.451C>A (RDH12) ENSP00000449079.1:p.His151Asn
NM_152443.2:c.451C>A (RDH12) NP_689656.2:p.His151Asn
XM_017020925.2:c.1313-8212C>A (GPHN) XP_016876414.1:n.1313-8212C>A
NM_152443.3:c.451C>A (RDH12) MANE Select NP_689656.2:p.His151Asn
Search 100 bp 5'
Search 100 bp 3'