Canonical Allele Identifier: CA2144004323
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729199G= , CM000676.2:g.67729199G= GRCh38
NC_000014.8:g.68195916G= , CM000676.1:g.68195916G= GRCh37
NC_000014.7:g.67265669G= NCBI36
NG_008321.1:g.32314G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.667G= (RDH12) MANE Select ENSP00000449079.1:p.Val223=
ENST00000267502.3:c.667G= (RDH12) ENSP00000267502.3:p.Val223=
ENST00000394455.6:n.3288+12C= (ZFYVE26)
ENST00000551171.5:c.667G= (RDH12) ENSP00000449079.1:p.Val223=
ENST00000552873.1:n.36G= (RDH12)
NM_152443.2:c.667G= (RDH12) NP_689656.2:p.Val223=
XM_017020925.2:c.1313-5996G= (GPHN) XP_016876414.1:n.1313-5996G=
XM_017021125.1:c.*543C= (ZFYVE26) XP_016876614.1:n.*543C=
NM_152443.3:c.667G= (RDH12) MANE Select NP_689656.2:p.Val223=
Search 100 bp 5'
Search 100 bp 3'