Canonical Allele Identifier: CA239059

Gene: RP9

Linked Data

• ClinVar Variation Id: 193521
• ClinVar RCV Id: RCV000173596 ; RCV000334479
• dbSNP Id: rs775870239
• ExAC: 7:33148951 C / T
• gnomAD v2: 7-33148951-C-T
• gnomAD v3: 7-33109339-C-T
• gnomAD v4: 7-33109339-C-T
• MyVariant Identifiers: chr7:g.33148951C>T (hg19) ; chr7:g.33109339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33109339C>T , CM000669.2:g.33109339C>T	GRCh38
NC_000007.13:g.33148951C>T , CM000669.1:g.33148951C>T	GRCh37
NC_000007.12:g.33115476C>T	NCBI36
NG_012968.1:g.5052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.63G>A
ENST00000492391.2:n.64G>A
ENST00000682645.1:n.67G>A
ENST00000683432.1:c.34G>A	ENSP00000508174.1:p.Ala12Thr
ENST00000684207.1:c.34G>A	ENSP00000506942.1:p.Ala12Thr
ENST00000297157.8:c.34G>A MANE Select	ENSP00000297157.3:p.Ala12Thr
ENST00000297157.7:c.34G>A	ENSP00000297157.3:p.Ala12Thr
ENST00000474370.1:n.63G>A
NM_203288.1:c.34G>A	NP_976033.1:p.Ala12Thr
NM_203288.2:c.34G>A MANE Select	NP_976033.1:p.Ala12Thr