Canonical Allele Identifier: CA4213710

Gene: RP9

Linked Data

• dbSNP Id: rs776798833
• ExAC: 7:33136064 A / C
• gnomAD v2: 7-33136064-A-C
• gnomAD v3: 7-33096452-A-C
• gnomAD v4: 7-33096452-A-C
• MyVariant Identifiers: chr7:g.33136064A>C (hg19) ; chr7:g.33096452A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096452A>C , CM000669.2:g.33096452A>C	GRCh38
NC_000007.13:g.33136064A>C , CM000669.1:g.33136064A>C	GRCh37
NC_000007.12:g.33102589A>C	NCBI36
NG_012968.1:g.17939T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2440+41T>G
ENST00000492391.2:n.1591+41T>G
ENST00000682645.1:n.3538+41T>G
ENST00000683432.1:c.*642+41T>G	ENSP00000508174.1:n.*642+41T>G
ENST00000684207.1:c.*37T>G	ENSP00000506942.1:n.*37T>G
ENST00000297157.8:c.467+41T>G MANE Select	ENSP00000297157.3:n.467+41T>G
ENST00000297157.7:c.467+41T>G	ENSP00000297157.3:n.467+41T>G
ENST00000448915.1:c.365+41T>G	ENSP00000411577.1:n.365+41T>G
NM_203288.1:c.467+41T>G	NP_976033.1:n.467+41T>G
XM_011515468.1:c.365+41T>G	XP_011513770.1:n.365+41T>G
XM_011515468.3:c.365+41T>G	XP_011513770.1:n.365+41T>G
NM_203288.2:c.467+41T>G MANE Select	NP_976033.1:n.467+41T>G