Canonical Allele Identifier: CA7238802
Community Standard Title: NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729247C>T , CM000676.2:g.67729247C>T GRCh38
NC_000014.8:g.68195964C>T , CM000676.1:g.68195964C>T GRCh37
NC_000014.7:g.67265717C>T NCBI36
NG_008321.1:g.32362C>T

Transcript Alleles

HGVS Amino-acid Change
NM_152443.3:c.715C>T (RDH12) MANE Select NP_689656.2:p.Arg239Trp
ENST00000551171.6:c.715C>T (RDH12) MANE Select ENSP00000449079.1:p.Arg239Trp
NM_152443.2:c.715C>T (RDH12) NP_689656.2:p.Arg239Trp
ENST00000267502.3:c.715C>T (RDH12) ENSP00000267502.3:p.Arg239Trp
ENST00000394455.6:n.3252G>A (ZFYVE26)
ENST00000551171.5:c.715C>T (RDH12) ENSP00000449079.1:p.Arg239Trp
ENST00000552873.1:n.84C>T (RDH12)
XM_017020925.2:c.1313-5948C>T (GPHN) XP_016876414.1:n.1313-5948C>T
XM_017021125.1:c.*495G>A (ZFYVE26) XP_016876614.1:n.*495G>A
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