Canonical Allele Identifier: CA2144004292

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729134G= , CM000676.2:g.67729134G= GRCh38
NC_000014.8:g.68195851G= , CM000676.1:g.68195851G= GRCh37
NC_000014.7:g.67265604G= NCBI36
NG_008321.1:g.32249G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.659-57G= (RDH12) MANE Select ENSP00000449079.1:n.659-57G=
ENST00000267502.3:c.659-57G= (RDH12) ENSP00000267502.3:n.659-57G=
ENST00000394455.6:n.3288+77C= (ZFYVE26)
ENST00000551171.5:c.659-57G= (RDH12) ENSP00000449079.1:n.659-57G=
ENST00000552873.1:n.28-57G= (RDH12)
NM_152443.2:c.659-57G= (RDH12) NP_689656.2:n.659-57G=
XM_017020925.2:c.1313-6061G= (GPHN) XP_016876414.1:n.1313-6061G=
XM_017021125.1:c.*608C= (ZFYVE26) XP_016876614.1:n.*608C=
NM_152443.3:c.659-57G= (RDH12) MANE Select NP_689656.2:n.659-57G=