Canonical Allele Identifier: CA7238613
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.67724550C>A
GRCh37 chr14:g.68191267C>A
Revel Score:
ENST00000551171 (MANE Select) 0.777
ENST00000267502 0.777
ENST00000539142 0.777
gnomAD v2:
14:68191267 C / A
gnomAD v4:
chr14-67724550-C-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV001340739
ClinVar Variation:
1037561
dbSNP:
28940314
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67724550C>A , CM000676.2:g.67724550C>A GRCh38
NC_000014.8:g.68191267C>A , CM000676.1:g.68191267C>A GRCh37
NC_000014.7:g.67261020C>A NCBI36
NG_008321.1:g.27665C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.146C>A (RDH12) MANE Select ENSP00000449079.1:p.Thr49Lys
ENST00000267502.3:c.146C>A (RDH12) ENSP00000267502.3:p.Thr49Lys
ENST00000551171.5:c.146C>A (RDH12) ENSP00000449079.1:p.Thr49Lys
NM_152443.2:c.146C>A (RDH12) NP_689656.2:p.Thr49Lys
XM_017020925.2:c.1313-10645C>A (GPHN) XP_016876414.1:n.1313-10645C>A
NM_152443.3:c.146C>A (RDH12) MANE Select NP_689656.2:p.Thr49Lys
Search 100 bp 5'
Search 100 bp 3'