Canonical Allele Identifier: CA367181373

Gene: RP9

Linked Data

• MyVariant Identifiers: chr7:g.33136130T>G (hg19) ; chr7:g.33096518T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096518T>G , CM000669.2:g.33096518T>G	GRCh38
NC_000007.13:g.33136130T>G , CM000669.1:g.33136130T>G	GRCh37
NC_000007.12:g.33102655T>G	NCBI36
NG_012968.1:g.17873A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2415A>C
ENST00000492391.2:n.1566A>C
ENST00000682645.1:n.3513A>C
ENST00000683432.1:c.*617A>C	ENSP00000508174.1:n.*617A>C
ENST00000684207.1:c.442A>C	ENSP00000506942.1:p.Asn148His
ENST00000297157.8:c.442A>C MANE Select	ENSP00000297157.3:p.Asn148His
ENST00000297157.7:c.442A>C	ENSP00000297157.3:p.Asn148His
ENST00000448915.1:c.340A>C	ENSP00000411577.1:p.Asn114His
NM_203288.1:c.442A>C	NP_976033.1:p.Asn148His
XM_011515468.1:c.340A>C	XP_011513770.1:p.Asn114His
XM_011515468.3:c.340A>C	XP_011513770.1:p.Asn114His
NM_203288.2:c.442A>C MANE Select	NP_976033.1:p.Asn148His