Canonical Allele Identifier: CA246264
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 197878
ClinVar RCV Id: RCV000330650 RCV001067765 RCV001073904 RCV001826911
dbSNP Id: rs797044761
ExAC: 14:68191837 G / GC
gnomAD v2: 14-68191837-G-GC
gnomAD v3: 14-67725120-G-GC
gnomAD v4: 14-67725120-G-GC
MyVariant Identifiers: chr14:g.68191838dupC (hg19) chr14:g.68191837_68191838insC (hg19) chr14:g.67725121dupC (hg38) chr14:g.67725120_67725121insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725121dup , CM000676.2:g.67725121dup GRCh38
NC_000014.8:g.68191838dup , CM000676.1:g.68191838dup GRCh37
NC_000014.7:g.67261591dup NCBI36
NG_008321.1:g.28236dup

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.210dup (RDH12) MANE Select ENSP00000449079.1:p.Arg71GlnfsTer12
ENST00000267502.3:c.210dup (RDH12) ENSP00000267502.3:p.Arg71GlnfsTer12
ENST00000551171.5:c.210dup (RDH12) ENSP00000449079.1:p.Arg71GlnfsTer12
NM_152443.2:c.210dup (RDH12) NP_689656.2:p.Arg71GlnfsTer12
XM_017020925.2:c.1313-10074dup (GPHN) XP_016876414.1:n.1313-10074dup
NM_152443.3:c.210dup (RDH12) MANE Select NP_689656.2:p.Arg71GlnfsTer12
Search 100 bp 5'
Search 100 bp 3'