Canonical Allele Identifier: CA390151166
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.68193815A>C (hg19) chr14:g.67727098A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67727098A>C , CM000676.2:g.67727098A>C GRCh38
NC_000014.8:g.68193815A>C , CM000676.1:g.68193815A>C GRCh37
NC_000014.7:g.67263568A>C NCBI36
NG_008321.1:g.30213A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.566A>C (RDH12) MANE Select ENSP00000449079.1:p.Gln189Pro
ENST00000267502.3:c.566A>C (RDH12) ENSP00000267502.3:p.Gln189Pro
ENST00000551171.5:c.566A>C (RDH12) ENSP00000449079.1:p.Gln189Pro
NM_152443.2:c.566A>C (RDH12) NP_689656.2:p.Gln189Pro
XM_017020925.2:c.1313-8097A>C (GPHN) XP_016876414.1:n.1313-8097A>C
NM_152443.3:c.566A>C (RDH12) MANE Select NP_689656.2:p.Gln189Pro
Search 100 bp 5'
Search 100 bp 3'