Canonical Allele Identifier: CA386786492

Gene: RPH3A

Linked Data

• dbSNP Id: rs2042951537
• MyVariant Identifiers: chr12:g.113321119A>T (hg19) ; chr12:g.112883314A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112883314A>T , CM000674.2:g.112883314A>T	GRCh38
NC_000012.11:g.113321119A>T , CM000674.1:g.113321119A>T	GRCh37
NC_000012.10:g.111805502A>T	NCBI36
NG_052871.1:g.313218A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389385.9:c.1348A>T MANE Select	ENSP00000374036.4:p.Thr450Ser
ENST00000389385.8:c.1348A>T	ENSP00000374036.4:p.Thr450Ser
ENST00000415485.7:c.1348A>T	ENSP00000405357.3:p.Thr450Ser
ENST00000543106.6:c.1348A>T	ENSP00000440384.2:p.Thr450Ser
ENST00000548866.5:c.1201A>T	ENSP00000450347.1:p.Thr401Ser
ENST00000549913.6:n.2350A>T
ENST00000551052.5:c.1336A>T	ENSP00000448297.1:p.Thr446Ser
ENST00000552755.1:n.1014A>T
NM_001143854.1:c.1348A>T	NP_001137326.1:p.Thr450Ser
NM_014954.3:c.1336A>T	NP_055769.2:p.Thr446Ser
XM_011538048.1:c.1348A>T	XP_011536350.1:p.Thr450Ser
NM_001347952.1:c.1348A>T	NP_001334881.1:p.Thr450Ser
NM_001347953.1:c.1348A>T	NP_001334882.1:p.Thr450Ser
NM_001347954.1:c.1348A>T	NP_001334883.1:p.Thr450Ser
NM_001347955.1:c.1147A>T	NP_001334884.1:p.Thr383Ser
NR_145126.1:n.1756A>T
NR_145127.1:n.1929A>T
XM_017019034.2:c.304A>T	XP_016874523.1:p.Thr102Ser
NM_001143854.2:c.1348A>T MANE Select	NP_001137326.1:p.Thr450Ser
NM_001347952.2:c.1348A>T	NP_001334881.1:p.Thr450Ser
NM_001347954.2:c.1348A>T	NP_001334883.1:p.Thr450Ser
NM_001347955.2:c.1147A>T	NP_001334884.1:p.Thr383Ser
NM_014954.4:c.1336A>T	NP_055769.2:p.Thr446Ser
NR_145126.2:n.1752A>T
NR_145127.2:n.1925A>T