Canonical Allele Identifier: CA2144004314
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729180C= , CM000676.2:g.67729180C= GRCh38
NC_000014.8:g.68195897C= , CM000676.1:g.68195897C= GRCh37
NC_000014.7:g.67265650C= NCBI36
NG_008321.1:g.32295C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.659-11C= (RDH12) MANE Select ENSP00000449079.1:n.659-11C=
ENST00000267502.3:c.659-11C= (RDH12) ENSP00000267502.3:n.659-11C=
ENST00000394455.6:n.3288+31G= (ZFYVE26)
ENST00000551171.5:c.659-11C= (RDH12) ENSP00000449079.1:n.659-11C=
ENST00000552873.1:n.28-11C= (RDH12)
NM_152443.2:c.659-11C= (RDH12) NP_689656.2:n.659-11C=
XM_017020925.2:c.1313-6015C= (GPHN) XP_016876414.1:n.1313-6015C=
XM_017021125.1:c.*562G= (ZFYVE26) XP_016876614.1:n.*562G=
NM_152443.3:c.659-11C= (RDH12) MANE Select NP_689656.2:n.659-11C=
Search 100 bp 5'
Search 100 bp 3'