Canonical Allele Identifier: CA390148499
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 1381211
ClinVar RCV Id: RCV001895252
dbSNP Id: rs1345040413
gnomAD v3: 14-67725110-T-C
gnomAD v4: 14-67725110-T-C
MyVariant Identifiers: chr14:g.68191827T>C (hg19) chr14:g.67725110T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725110T>C , CM000676.2:g.67725110T>C GRCh38
NC_000014.8:g.68191827T>C , CM000676.1:g.68191827T>C GRCh37
NC_000014.7:g.67261580T>C NCBI36
NG_008321.1:g.28225T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.199T>C (RDH12) MANE Select ENSP00000449079.1:p.Tyr67His
ENST00000267502.3:c.199T>C (RDH12) ENSP00000267502.3:p.Tyr67His
ENST00000551171.5:c.199T>C (RDH12) ENSP00000449079.1:p.Tyr67His
NM_152443.2:c.199T>C (RDH12) NP_689656.2:p.Tyr67His
XM_017020925.2:c.1313-10085T>C (GPHN) XP_016876414.1:n.1313-10085T>C
NM_152443.3:c.199T>C (RDH12) MANE Select NP_689656.2:p.Tyr67His
Search 100 bp 5'
Search 100 bp 3'