Canonical Allele Identifier: CA246262

Gene: RDH12 GPHN

Linked Data

• ClinVar Variation Id: 197877
• ClinVar RCV Id: RCV000179018 ; RCV001088243 ; RCV001109346 ; RCV001275428
• dbSNP Id: rs746513362
• ExAC: 14:68191928 C / T
• gnomAD v2: 14-68191928-C-T
• gnomAD v3: 14-67725211-C-T
• gnomAD v4: 14-67725211-C-T
• MyVariant Identifiers: chr14:g.68191928C>T (hg19) ; chr14:g.67725211C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67725211C>T , CM000676.2:g.67725211C>T	GRCh38
NC_000014.8:g.68191928C>T , CM000676.1:g.68191928C>T	GRCh37
NC_000014.7:g.67261681C>T	NCBI36
NG_008321.1:g.28326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.300C>T (RDH12) MANE Select	ENSP00000449079.1:p.Ser100=
ENST00000267502.3:c.300C>T (RDH12)	ENSP00000267502.3:p.Ser100=
ENST00000551171.5:c.300C>T (RDH12)	ENSP00000449079.1:p.Ser100=
NM_152443.2:c.300C>T (RDH12)	NP_689656.2:p.Ser100=
XM_017020925.2:c.1313-9984C>T (GPHN)	XP_016876414.1:n.1313-9984C>T
NM_152443.3:c.300C>T (RDH12) MANE Select	NP_689656.2:p.Ser100=