Canonical Allele Identifier: CA244006833

Gene: RPH3A

Linked Data

• dbSNP Id: rs564688566
• gnomAD v2: 12-113033143-A-C
• gnomAD v3: 12-112595339-A-C
• gnomAD v4: 12-112595339-A-C
• MyVariant Identifiers: chr12:g.113033143A>C (hg19) ; chr12:g.112595339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112595339A>C , CM000674.2:g.112595339A>C	GRCh38
NC_000012.11:g.113033143A>C , CM000674.1:g.113033143A>C	GRCh37
NC_000012.10:g.111517526A>C	NCBI36
NG_052871.1:g.25243A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543106.6:c.-140+20020A>C	ENSP00000440384.2:n.-140+20020A>C
ENST00000546426.5:c.-369+20020A>C	ENSP00000447639.1:n.-369+20020A>C
ENST00000546703.5:c.-258+20020A>C	ENSP00000446556.1:n.-258+20020A>C
ENST00000547686.5:c.-212+20275A>C	ENSP00000449705.1:n.-212+20275A>C
ENST00000547840.5:c.-140+3739A>C	ENSP00000450382.1:n.-140+3739A>C
ENST00000548197.5:c.-140+24795A>C	ENSP00000446570.1:n.-140+24795A>C
ENST00000549736.5:c.-251+24795A>C	ENSP00000446789.1:n.-251+24795A>C
ENST00000551593.5:c.-19+20020A>C	ENSP00000446780.1:n.-19+20020A>C
ENST00000551748.5:c.-197+20024A>C	ENSP00000447306.1:n.-197+20024A>C
NM_001347952.1:c.-140+20020A>C	NP_001334881.1:n.-140+20020A>C
NM_001347952.2:c.-140+20020A>C	NP_001334881.1:n.-140+20020A>C