Canonical Allele Identifier: CA354959

Gene: RPH3A

Linked Data

• ClinVar Variation Id: 224156
• ClinVar RCV Id: RCV000209913
• dbSNP Id: rs869312710
• MyVariant Identifiers: chr12:g.113321120C>G (hg19) ; chr12:g.112883315C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112883315C>G , CM000674.2:g.112883315C>G	GRCh38
NC_000012.11:g.113321120C>G , CM000674.1:g.113321120C>G	GRCh37
NC_000012.10:g.111805503C>G	NCBI36
NG_052871.1:g.313219C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389385.9:c.1349C>G MANE Select	ENSP00000374036.4:p.Thr450Ser
ENST00000389385.8:c.1349C>G	ENSP00000374036.4:p.Thr450Ser
ENST00000415485.7:c.1349C>G	ENSP00000405357.3:p.Thr450Ser
ENST00000543106.6:c.1349C>G	ENSP00000440384.2:p.Thr450Ser
ENST00000548866.5:c.1202C>G	ENSP00000450347.1:p.Thr401Ser
ENST00000549913.6:n.2351C>G
ENST00000551052.5:c.1337C>G	ENSP00000448297.1:p.Thr446Ser
ENST00000552755.1:n.1015C>G
NM_001143854.1:c.1349C>G	NP_001137326.1:p.Thr450Ser
NM_014954.3:c.1337C>G	NP_055769.2:p.Thr446Ser
XM_011538048.1:c.1349C>G	XP_011536350.1:p.Thr450Ser
NM_001347952.1:c.1349C>G	NP_001334881.1:p.Thr450Ser
NM_001347953.1:c.1349C>G	NP_001334882.1:p.Thr450Ser
NM_001347954.1:c.1349C>G	NP_001334883.1:p.Thr450Ser
NM_001347955.1:c.1148C>G	NP_001334884.1:p.Thr383Ser
NR_145126.1:n.1757C>G
NR_145127.1:n.1930C>G
XM_017019034.2:c.305C>G	XP_016874523.1:p.Thr102Ser
NM_001143854.2:c.1349C>G MANE Select	NP_001137326.1:p.Thr450Ser
NM_001347952.2:c.1349C>G	NP_001334881.1:p.Thr450Ser
NM_001347954.2:c.1349C>G	NP_001334883.1:p.Thr450Ser
NM_001347955.2:c.1148C>G	NP_001334884.1:p.Thr383Ser
NM_014954.4:c.1337C>G	NP_055769.2:p.Thr446Ser
NR_145126.2:n.1753C>G
NR_145127.2:n.1926C>G