Canonical Allele Identifier: CA486768450
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 2190051
ClinVar RCV Id: RCV002612023
dbSNP Id: rs2038171415
MyVariant Identifiers: chr14:g.68191934C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725217C>T , CM000676.2:g.67725217C>T GRCh38
NC_000014.8:g.68191934C>T , CM000676.1:g.68191934C>T GRCh37
NC_000014.7:g.67261687C>T NCBI36
NG_008321.1:g.28332C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.306C>T (RDH12) MANE Select ENSP00000449079.1:p.Thr102=
ENST00000267502.3:c.306C>T (RDH12) ENSP00000267502.3:p.Thr102=
ENST00000551171.5:c.306C>T (RDH12) ENSP00000449079.1:p.Thr102=
NM_152443.2:c.306C>T (RDH12) NP_689656.2:p.Thr102=
XM_017020925.2:c.1313-9978C>T (GPHN) XP_016876414.1:n.1313-9978C>T
NM_152443.3:c.306C>T (RDH12) MANE Select NP_689656.2:p.Thr102=
Search 100 bp 5'
Search 100 bp 3'