Canonical Allele Identifier: CA486771967

Gene: RDH12 ZFYVE26 GPHN

Linked Data

• gnomAD v4: 14-67729222-A-G
• MyVariant Identifiers: chr14:g.68195939A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.67729222A>G , CM000676.2:g.67729222A>G	GRCh38
NC_000014.8:g.68195939A>G , CM000676.1:g.68195939A>G	GRCh37
NC_000014.7:g.67265692A>G	NCBI36
NG_008321.1:g.32337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551171.6:c.690A>G (RDH12) MANE Select	ENSP00000449079.1:p.Pro230=
ENST00000267502.3:c.690A>G (RDH12)	ENSP00000267502.3:p.Pro230=
ENST00000394455.6:n.3277T>C (ZFYVE26)
ENST00000551171.5:c.690A>G (RDH12)	ENSP00000449079.1:p.Pro230=
ENST00000552873.1:n.59A>G (RDH12)
NM_152443.2:c.690A>G (RDH12)	NP_689656.2:p.Pro230=
XM_017020925.2:c.1313-5973A>G (GPHN)	XP_016876414.1:n.1313-5973A>G
XM_017021125.1:c.*520T>C (ZFYVE26)	XP_016876614.1:n.*520T>C
NM_152443.3:c.690A>G (RDH12) MANE Select	NP_689656.2:p.Pro230=