Canonical Allele Identifier: CA486771929
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 2866260
ClinVar RCV Id: RCV003602621
MyVariant Identifiers: chr14:g.68195912C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729195C>A , CM000676.2:g.67729195C>A GRCh38
NC_000014.8:g.68195912C>A , CM000676.1:g.68195912C>A GRCh37
NC_000014.7:g.67265665C>A NCBI36
NG_008321.1:g.32310C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.663C>A (RDH12) MANE Select ENSP00000449079.1:p.Thr221=
ENST00000267502.3:c.663C>A (RDH12) ENSP00000267502.3:p.Thr221=
ENST00000394455.6:n.3288+16G>T (ZFYVE26)
ENST00000551171.5:c.663C>A (RDH12) ENSP00000449079.1:p.Thr221=
ENST00000552873.1:n.32C>A (RDH12)
NM_152443.2:c.663C>A (RDH12) NP_689656.2:p.Thr221=
XM_017020925.2:c.1313-6000C>A (GPHN) XP_016876414.1:n.1313-6000C>A
XM_017021125.1:c.*547G>T (ZFYVE26) XP_016876614.1:n.*547G>T
NM_152443.3:c.663C>A (RDH12) MANE Select NP_689656.2:p.Thr221=
Search 100 bp 5'
Search 100 bp 3'