Canonical Allele Identifier: CA252086

Linked Data

ClinVar Variation Id: 2053
ClinVar RCV Id: RCV000002134
dbSNP Id: rs104894476

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729220C>G , CM000676.2:g.67729220C>G GRCh38
NC_000014.8:g.68195937C>G , CM000676.1:g.68195937C>G GRCh37
NC_000014.7:g.67265690C>G NCBI36
NG_008321.1:g.32335C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.688C>G (RDH12) MANE Select ENSP00000449079.1:p.Pro230Ala
ENST00000267502.3:c.688C>G (RDH12) ENSP00000267502.3:p.Pro230Ala
ENST00000394455.6:n.3279G>C (ZFYVE26)
ENST00000551171.5:c.688C>G (RDH12) ENSP00000449079.1:p.Pro230Ala
ENST00000552873.1:n.57C>G (RDH12)
NM_152443.2:c.688C>G (RDH12) NP_689656.2:p.Pro230Ala
XM_017020925.2:c.1313-5975C>G (GPHN) XP_016876414.1:n.1313-5975C>G
XM_017021125.1:c.*522G>C (ZFYVE26) XP_016876614.1:n.*522G>C
NM_152443.3:c.688C>G (RDH12) MANE Select NP_689656.2:p.Pro230Ala