Canonical Allele Identifier: CA390148784
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.68191935A>C (hg19) chr14:g.67725218A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725218A>C , CM000676.2:g.67725218A>C GRCh38
NC_000014.8:g.68191935A>C , CM000676.1:g.68191935A>C GRCh37
NC_000014.7:g.67261688A>C NCBI36
NG_008321.1:g.28333A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.307A>C (RDH12) MANE Select ENSP00000449079.1:p.Lys103Gln
ENST00000267502.3:c.307A>C (RDH12) ENSP00000267502.3:p.Lys103Gln
ENST00000551171.5:c.307A>C (RDH12) ENSP00000449079.1:p.Lys103Gln
NM_152443.2:c.307A>C (RDH12) NP_689656.2:p.Lys103Gln
XM_017020925.2:c.1313-9977A>C (GPHN) XP_016876414.1:n.1313-9977A>C
NM_152443.3:c.307A>C (RDH12) MANE Select NP_689656.2:p.Lys103Gln
Search 100 bp 5'
Search 100 bp 3'