Canonical Allele Identifier: CA390152917
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 1045693
ClinVar RCV Id: RCV001350149
dbSNP Id: rs2038232614
gnomAD v4: 14-67729223-G-C
MyVariant Identifiers: chr14:g.68195940G>C (hg19) chr14:g.67729223G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729223G>C , CM000676.2:g.67729223G>C GRCh38
NC_000014.8:g.68195940G>C , CM000676.1:g.68195940G>C GRCh37
NC_000014.7:g.67265693G>C NCBI36
NG_008321.1:g.32338G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.691G>C (RDH12) MANE Select ENSP00000449079.1:p.Gly231Arg
ENST00000267502.3:c.691G>C (RDH12) ENSP00000267502.3:p.Gly231Arg
ENST00000394455.6:n.3276C>G (ZFYVE26)
ENST00000551171.5:c.691G>C (RDH12) ENSP00000449079.1:p.Gly231Arg
ENST00000552873.1:n.60G>C (RDH12)
NM_152443.2:c.691G>C (RDH12) NP_689656.2:p.Gly231Arg
XM_017020925.2:c.1313-5972G>C (GPHN) XP_016876414.1:n.1313-5972G>C
XM_017021125.1:c.*519C>G (ZFYVE26) XP_016876614.1:n.*519C>G
NM_152443.3:c.691G>C (RDH12) MANE Select NP_689656.2:p.Gly231Arg
Search 100 bp 5'
Search 100 bp 3'