Canonical Allele Identifier: CA454342429

Gene: RP9

Linked Data

• gnomAD v4: 7-33096552-T-C
• MyVariant Identifiers: chr7:g.33136164T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096552T>C , CM000669.2:g.33096552T>C	GRCh38
NC_000007.13:g.33136164T>C , CM000669.1:g.33136164T>C	GRCh37
NC_000007.12:g.33102689T>C	NCBI36
NG_012968.1:g.17839A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2381A>G
ENST00000492391.2:n.1532A>G
ENST00000682645.1:n.3479A>G
ENST00000683432.1:c.*583A>G	ENSP00000508174.1:n.*583A>G
ENST00000684207.1:c.408A>G	ENSP00000506942.1:p.Ala136=
ENST00000297157.8:c.408A>G MANE Select	ENSP00000297157.3:p.Ala136=
ENST00000297157.7:c.408A>G	ENSP00000297157.3:p.Ala136=
ENST00000448915.1:c.306A>G	ENSP00000411577.1:p.Ala102=
NM_203288.1:c.408A>G	NP_976033.1:p.Ala136=
XM_011515468.1:c.306A>G	XP_011513770.1:p.Ala102=
XM_011515468.3:c.306A>G	XP_011513770.1:p.Ala102=
NM_203288.2:c.408A>G MANE Select	NP_976033.1:p.Ala136=