Canonical Allele Identifier: CA2144002728
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725317T= , CM000676.2:g.67725317T= GRCh38
NC_000014.8:g.68192034T= , CM000676.1:g.68192034T= GRCh37
NC_000014.7:g.67261787T= NCBI36
NG_008321.1:g.28432T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.343+63T= (RDH12) MANE Select ENSP00000449079.1:n.343+63T=
ENST00000267502.3:c.343+63T= (RDH12) ENSP00000267502.3:n.343+63T=
ENST00000551171.5:c.343+63T= (RDH12) ENSP00000449079.1:n.343+63T=
NM_152443.2:c.343+63T= (RDH12) NP_689656.2:n.343+63T=
XM_017020925.2:c.1313-9878T= (GPHN) XP_016876414.1:n.1313-9878T=
NM_152443.3:c.343+63T= (RDH12) MANE Select NP_689656.2:n.343+63T=
Search 100 bp 5'
Search 100 bp 3'