Canonical Allele Identifier: CA390148606
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 488802
ClinVar RCV Id: RCV000578516 RCV001058196
dbSNP Id: rs1349849938
gnomAD v2: 14-68191878-C-T
gnomAD v3: 14-67725161-C-T
gnomAD v4: 14-67725161-C-T
MyVariant Identifiers: chr14:g.68191878C>T (hg19) chr14:g.67725161C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725161C>T , CM000676.2:g.67725161C>T GRCh38
NC_000014.8:g.68191878C>T , CM000676.1:g.68191878C>T GRCh37
NC_000014.7:g.67261631C>T NCBI36
NG_008321.1:g.28276C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.250C>T (RDH12) MANE Select ENSP00000449079.1:p.Arg84Ter
ENST00000267502.3:c.250C>T (RDH12) ENSP00000267502.3:p.Arg84Ter
ENST00000551171.5:c.250C>T (RDH12) ENSP00000449079.1:p.Arg84Ter
NM_152443.2:c.250C>T (RDH12) NP_689656.2:p.Arg84Ter
XM_017020925.2:c.1313-10034C>T (GPHN) XP_016876414.1:n.1313-10034C>T
NM_152443.3:c.250C>T (RDH12) MANE Select NP_689656.2:p.Arg84Ter
Search 100 bp 5'
Search 100 bp 3'