Canonical Allele Identifier: CA7238784

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• ClinVar Variation Id: 313840
• ClinVar RCV Id: RCV000408169 ; RCV001510147 ; RCV001109350
• dbSNP Id: rs77686476
• ExAC: 14:68195896 T / C
• gnomAD v2: 14-68195896-T-C
• gnomAD v3: 14-67729179-T-C
• gnomAD v4: 14-67729179-T-C
• MyVariant Identifiers: chr14:g.68195896T>C (hg19) ; chr14:g.67729179T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729179T>C , CM000676.2:g.67729179T>C	GRCh38
NC_000014.8:g.68195896T>C , CM000676.1:g.68195896T>C	GRCh37
NC_000014.7:g.67265649T>C	NCBI36
NG_008321.1:g.32294T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.659-12T>C (RDH12) MANE Select	ENSP00000449079.1:n.659-12T>C
ENST00000267502.3:c.659-12T>C (RDH12)	ENSP00000267502.3:n.659-12T>C
ENST00000394455.6:n.3288+32A>G (ZFYVE26)
ENST00000551171.5:c.659-12T>C (RDH12)	ENSP00000449079.1:n.659-12T>C
ENST00000552873.1:n.28-12T>C (RDH12)
NM_152443.2:c.659-12T>C (RDH12)	NP_689656.2:n.659-12T>C
XM_017020925.2:c.1313-6016T>C (GPHN)	XP_016876414.1:n.1313-6016T>C
XM_017021125.1:c.*563A>G (ZFYVE26)	XP_016876614.1:n.*563A>G
NM_152443.3:c.659-12T>C (RDH12) MANE Select	NP_689656.2:n.659-12T>C