Canonical Allele Identifier: CA390151193
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.68193817A>G (hg19) chr14:g.67727100A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67727100A>G , CM000676.2:g.67727100A>G GRCh38
NC_000014.8:g.68193817A>G , CM000676.1:g.68193817A>G GRCh37
NC_000014.7:g.67263570A>G NCBI36
NG_008321.1:g.30215A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.568A>G (RDH12) MANE Select ENSP00000449079.1:p.Ser190Gly
ENST00000267502.3:c.568A>G (RDH12) ENSP00000267502.3:p.Ser190Gly
ENST00000551171.5:c.568A>G (RDH12) ENSP00000449079.1:p.Ser190Gly
NM_152443.2:c.568A>G (RDH12) NP_689656.2:p.Ser190Gly
XM_017020925.2:c.1313-8095A>G (GPHN) XP_016876414.1:n.1313-8095A>G
NM_152443.3:c.568A>G (RDH12) MANE Select NP_689656.2:p.Ser190Gly
Search 100 bp 5'
Search 100 bp 3'