Canonical Allele Identifier: CA390152903
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI

Linked Data

dbSNP Id: rs1252565353
gnomAD v4: 14-67729217-C-T
MyVariant Identifiers: chr14:g.68195934C>T (hg19) chr14:g.67729217C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729217C>T , CM000676.2:g.67729217C>T GRCh38
NC_000014.8:g.68195934C>T , CM000676.1:g.68195934C>T GRCh37
NC_000014.7:g.67265687C>T NCBI36
NG_008321.1:g.32332C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.685C>T (RDH12) MANE Select ENSP00000449079.1:p.His229Tyr
ENST00000267502.3:c.685C>T (RDH12) ENSP00000267502.3:p.His229Tyr
ENST00000394455.6:n.3282G>A (ZFYVE26)
ENST00000551171.5:c.685C>T (RDH12) ENSP00000449079.1:p.His229Tyr
ENST00000552873.1:n.54C>T (RDH12)
NM_152443.2:c.685C>T (RDH12) NP_689656.2:p.His229Tyr
XM_017020925.2:c.1313-5978C>T (GPHN) XP_016876414.1:n.1313-5978C>T
XM_017021125.1:c.*525G>A (ZFYVE26) XP_016876614.1:n.*525G>A
NM_152443.3:c.685C>T (RDH12) MANE Select NP_689656.2:p.His229Tyr
Search 100 bp 5'
Search 100 bp 3'