Canonical Allele Identifier: CA390152961

Gene: RDH12 ZFYVE26 GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729248G>A , CM000676.2:g.67729248G>A	GRCh38
NC_000014.8:g.68195965G>A , CM000676.1:g.68195965G>A	GRCh37
NC_000014.7:g.67265718G>A	NCBI36
NG_008321.1:g.32363G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_152443.3:c.716G>A (RDH12) MANE Select	NP_689656.2:p.Arg239Gln
ENST00000551171.6:c.716G>A (RDH12) MANE Select	ENSP00000449079.1:p.Arg239Gln
NM_152443.2:c.716G>A (RDH12)	NP_689656.2:p.Arg239Gln
ENST00000267502.3:c.716G>A (RDH12)	ENSP00000267502.3:p.Arg239Gln
ENST00000394455.6:n.3251C>T (ZFYVE26)
ENST00000551171.5:c.716G>A (RDH12)	ENSP00000449079.1:p.Arg239Gln
ENST00000552873.1:n.85G>A (RDH12)
XM_017020925.2:c.1313-5947G>A (GPHN)	XP_016876414.1:n.1313-5947G>A
XM_017021125.1:c.*494C>T (ZFYVE26)	XP_016876614.1:n.*494C>T