Canonical Allele Identifier: CA390152912

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• MyVariant Identifiers: chr14:g.68195938C>A (hg19) ; chr14:g.67729221C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729221C>A , CM000676.2:g.67729221C>A	GRCh38
NC_000014.8:g.68195938C>A , CM000676.1:g.68195938C>A	GRCh37
NC_000014.7:g.67265691C>A	NCBI36
NG_008321.1:g.32336C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.689C>A (RDH12) MANE Select	ENSP00000449079.1:p.Pro230Gln
ENST00000267502.3:c.689C>A (RDH12)	ENSP00000267502.3:p.Pro230Gln
ENST00000394455.6:n.3278G>T (ZFYVE26)
ENST00000551171.5:c.689C>A (RDH12)	ENSP00000449079.1:p.Pro230Gln
ENST00000552873.1:n.58C>A (RDH12)
NM_152443.2:c.689C>A (RDH12)	NP_689656.2:p.Pro230Gln
XM_017020925.2:c.1313-5974C>A (GPHN)	XP_016876414.1:n.1313-5974C>A
XM_017021125.1:c.*521G>T (ZFYVE26)	XP_016876614.1:n.*521G>T
NM_152443.3:c.689C>A (RDH12) MANE Select	NP_689656.2:p.Pro230Gln