Canonical Allele Identifier: CA252077

Identifiers and link-outs to other resources

ClinVar Variation Id: 2046
ClinVar RCV Id: RCV000002127
dbSNP Id: rs28940313

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729209A>G , CM000676.2:g.67729209A>G GRCh38
NC_000014.8:g.68195926A>G , CM000676.1:g.68195926A>G GRCh37
NC_000014.7:g.67265679A>G NCBI36
NG_008321.1:g.32324A>G

Transcript Alleles

HGVS Amino-acid change
NM_152443.2:c.677A>G (RDH12) VV NP_689656.2:p.Tyr226Cys
XM_017020925.2:c.1313-5986A>G (GPHN) XP_016876414.1:p.=
XM_017021125.1:c.*533T>C (ZFYVE26) XP_016876614.1:p.=
ENST00000267502.3:c.677A>G ENSP00000267502.3:p.Tyr226Cys
ENST00000394455.6:n.3288+2T>C
ENST00000551171.5:c.677A>G ENSP00000449079.1:p.Tyr226Cys
ENST00000552873.1:n.46A>G