Canonical Allele Identifier: CA390148759
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

COSMIC: COSM1263963
MyVariant Identifiers: chr14:g.68191927C>G (hg19) chr14:g.67725210C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725210C>G , CM000676.2:g.67725210C>G GRCh38
NC_000014.8:g.68191927C>G , CM000676.1:g.68191927C>G GRCh37
NC_000014.7:g.67261680C>G NCBI36
NG_008321.1:g.28325C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.299C>G (RDH12) MANE Select ENSP00000449079.1:p.Ser100Cys
ENST00000267502.3:c.299C>G (RDH12) ENSP00000267502.3:p.Ser100Cys
ENST00000551171.5:c.299C>G (RDH12) ENSP00000449079.1:p.Ser100Cys
NM_152443.2:c.299C>G (RDH12) NP_689656.2:p.Ser100Cys
XM_017020925.2:c.1313-9985C>G (GPHN) XP_016876414.1:n.1313-9985C>G
NM_152443.3:c.299C>G (RDH12) MANE Select NP_689656.2:p.Ser100Cys
Search 100 bp 5'
Search 100 bp 3'