Canonical Allele Identifier: CA2695219471
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725118dup , CM000676.2:g.67725118dup GRCh38
NC_000014.8:g.68191835dup , CM000676.1:g.68191835dup GRCh37
NC_000014.7:g.67261588dup NCBI36
NG_008321.1:g.28233dup

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.207dup (RDH12) MANE Select ENSP00000449079.1:p.Cys70LeufsTer13
ENST00000267502.3:c.207dup (RDH12) ENSP00000267502.3:p.Cys70LeufsTer13
ENST00000551171.5:c.207dup (RDH12) ENSP00000449079.1:p.Cys70LeufsTer13
NM_152443.2:c.207dup (RDH12) NP_689656.2:p.Cys70LeufsTer13
XM_017020925.2:c.1313-10077dup (GPHN) XP_016876414.1:n.1313-10077dup
NM_152443.3:c.207dup (RDH12) MANE Select NP_689656.2:p.Cys70LeufsTer13
Search 100 bp 5'
Search 100 bp 3'