Canonical Allele Identifier: CA2144002634

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67725117C= , CM000676.2:g.67725117C= GRCh38
NC_000014.8:g.68191834C= , CM000676.1:g.68191834C= GRCh37
NC_000014.7:g.67261587C= NCBI36
NG_008321.1:g.28232C=

Transcript Alleles

HGVS Amino-acid change
ENST00000551171.6:c.206C= (RDH12) MANE Select ENSP00000449079.1:p.Ala69=
ENST00000267502.3:c.206C= (RDH12) ENSP00000267502.3:p.Ala69=
ENST00000551171.5:c.206C= (RDH12) ENSP00000449079.1:p.Ala69=
NM_152443.2:c.206C= (RDH12) NP_689656.2:p.Ala69=
XM_017020925.2:c.1313-10078C= (GPHN) XP_016876414.1:n.1313-10078C=
NM_152443.3:c.206C= (RDH12) MANE Select NP_689656.2:p.Ala69=