Canonical Allele Identifier: CA115315
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 2061
ClinVar RCV Id: RCV000002142 RCV000132691 RCV001073666 RCV001223788 RCV001558134 RCV003155010
dbSNP Id: rs202126574
ExAC: 14:68192801 C / T
gnomAD v2: 14-68192801-C-T
gnomAD v4: 14-67726084-C-T
MyVariant Identifiers: chr14:g.68192801C>T (hg19) chr14:g.67726084C>T (hg38)
PubMed: PMID:19140180
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67726084C>T , CM000676.2:g.67726084C>T GRCh38
NC_000014.8:g.68192801C>T , CM000676.1:g.68192801C>T GRCh37
NC_000014.7:g.67262554C>T NCBI36
NG_008321.1:g.29199C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.377C>T (RDH12) MANE Select ENSP00000449079.1:p.Ala126Val
ENST00000267502.3:c.377C>T (RDH12) ENSP00000267502.3:p.Ala126Val
ENST00000551171.5:c.377C>T (RDH12) ENSP00000449079.1:p.Ala126Val
NM_152443.2:c.377C>T (RDH12) NP_689656.2:p.Ala126Val
XM_017020925.2:c.1313-9111C>T (GPHN) XP_016876414.1:n.1313-9111C>T
NM_152443.3:c.377C>T (RDH12) MANE Select NP_689656.2:p.Ala126Val
Search 100 bp 5'
Search 100 bp 3'