Canonical Allele Identifier: CA262810062
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 2054303
ClinVar RCV Id: RCV002927891
dbSNP Id: rs748826639
gnomAD v2: 14-68195913-G-A
gnomAD v3: 14-67729196-G-A
gnomAD v4: 14-67729196-G-A
MyVariant Identifiers: chr14:g.68195913G>A (hg19) chr14:g.67729196G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729196G>A , CM000676.2:g.67729196G>A GRCh38
NC_000014.8:g.68195913G>A , CM000676.1:g.68195913G>A GRCh37
NC_000014.7:g.67265666G>A NCBI36
NG_008321.1:g.32311G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.664G>A (RDH12) MANE Select ENSP00000449079.1:p.Gly222Arg
ENST00000267502.3:c.664G>A (RDH12) ENSP00000267502.3:p.Gly222Arg
ENST00000394455.6:n.3288+15C>T (ZFYVE26)
ENST00000551171.5:c.664G>A (RDH12) ENSP00000449079.1:p.Gly222Arg
ENST00000552873.1:n.33G>A (RDH12)
NM_152443.2:c.664G>A (RDH12) NP_689656.2:p.Gly222Arg
XM_017020925.2:c.1313-5999G>A (GPHN) XP_016876414.1:n.1313-5999G>A
XM_017021125.1:c.*546C>T (ZFYVE26) XP_016876614.1:n.*546C>T
NM_152443.3:c.664G>A (RDH12) MANE Select NP_689656.2:p.Gly222Arg
Search 100 bp 5'
Search 100 bp 3'