Canonical Allele Identifier: CA390148540
Gene: RDH12 HGNC NCBI
GPHN HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.68191845G>C (hg19) chr14:g.67725128G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725128G>C , CM000676.2:g.67725128G>C GRCh38
NC_000014.8:g.68191845G>C , CM000676.1:g.68191845G>C GRCh37
NC_000014.7:g.67261598G>C NCBI36
NG_008321.1:g.28243G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.217G>C (RDH12) MANE Select ENSP00000449079.1:p.Val73Leu
ENST00000267502.3:c.217G>C (RDH12) ENSP00000267502.3:p.Val73Leu
ENST00000551171.5:c.217G>C (RDH12) ENSP00000449079.1:p.Val73Leu
NM_152443.2:c.217G>C (RDH12) NP_689656.2:p.Val73Leu
XM_017020925.2:c.1313-10067G>C (GPHN) XP_016876414.1:n.1313-10067G>C
NM_152443.3:c.217G>C (RDH12) MANE Select NP_689656.2:p.Val73Leu
Search 100 bp 5'
Search 100 bp 3'