Canonical Allele Identifier: CA2063841926
Gene: RPH3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.112663189C= , CM000674.2:g.112663189C= GRCh38
NC_000012.11:g.113100994C= , CM000674.1:g.113100994C= GRCh37
NC_000012.10:g.111585377C= NCBI36
NG_052871.1:g.93093C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000543106.6:c.-140+87870C= ENSP00000440384.2:n.-140+87870C=
ENST00000546426.5:c.-140+11362C= ENSP00000447639.1:n.-140+11362C=
ENST00000546703.5:c.-140+45347C= ENSP00000446556.1:n.-140+45347C=
ENST00000547686.5:c.-101+11362C= ENSP00000449705.1:n.-101+11362C=
ENST00000547840.5:c.-140+71589C= ENSP00000450382.1:n.-140+71589C=
ENST00000548197.5:c.-140+92645C= ENSP00000446570.1:n.-140+92645C=
ENST00000549736.5:c.-140+11362C= ENSP00000446789.1:n.-140+11362C=
ENST00000551593.5:c.-19+87870C= ENSP00000446780.1:n.-19+87870C=
ENST00000551748.5:c.-19+11362C= ENSP00000447306.1:n.-19+11362C=
NM_001347952.1:c.-140+87870C= NP_001334881.1:n.-140+87870C=
NM_001347952.2:c.-140+87870C= NP_001334881.1:n.-140+87870C=