Canonical Allele Identifier: CA246262
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 197877
ClinVar RCV Id: RCV000179018 RCV001088243 RCV001109346 RCV001275428
dbSNP Id: rs746513362
ExAC: 14:68191928 C / T
gnomAD v2: 14-68191928-C-T
gnomAD v3: 14-67725211-C-T
gnomAD v4: 14-67725211-C-T
MyVariant Identifiers: chr14:g.68191928C>T (hg19) chr14:g.67725211C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725211C>T , CM000676.2:g.67725211C>T GRCh38
NC_000014.8:g.68191928C>T , CM000676.1:g.68191928C>T GRCh37
NC_000014.7:g.67261681C>T NCBI36
NG_008321.1:g.28326C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.300C>T (RDH12) MANE Select ENSP00000449079.1:p.Ser100=
ENST00000267502.3:c.300C>T (RDH12) ENSP00000267502.3:p.Ser100=
ENST00000551171.5:c.300C>T (RDH12) ENSP00000449079.1:p.Ser100=
NM_152443.2:c.300C>T (RDH12) NP_689656.2:p.Ser100=
XM_017020925.2:c.1313-9984C>T (GPHN) XP_016876414.1:n.1313-9984C>T
NM_152443.3:c.300C>T (RDH12) MANE Select NP_689656.2:p.Ser100=
Search 100 bp 5'
Search 100 bp 3'