Canonical Allele Identifier: CA2144004328

Gene: RDH12 ZFYVE26 GPHN

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729209A= , CM000676.2:g.67729209A=	GRCh38
NC_000014.8:g.68195926A= , CM000676.1:g.68195926A=	GRCh37
NC_000014.7:g.67265679A=	NCBI36
NG_008321.1:g.32324A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.677A= (RDH12) MANE Select	ENSP00000449079.1:p.Tyr226=
ENST00000267502.3:c.677A= (RDH12)	ENSP00000267502.3:p.Tyr226=
ENST00000394455.6:n.3288+2T= (ZFYVE26)
ENST00000551171.5:c.677A= (RDH12)	ENSP00000449079.1:p.Tyr226=
ENST00000552873.1:n.46A= (RDH12)
NM_152443.2:c.677A= (RDH12)	NP_689656.2:p.Tyr226=
XM_017020925.2:c.1313-5986A= (GPHN)	XP_016876414.1:n.1313-5986A=
XM_017021125.1:c.*533T= (ZFYVE26)	XP_016876614.1:n.*533T=
NM_152443.3:c.677A= (RDH12) MANE Select	NP_689656.2:p.Tyr226=