Canonical Allele Identifier: CA367181660

Gene: RP9

Linked Data

• gnomAD v4: 7-33096554-C-A
• MyVariant Identifiers: chr7:g.33136166C>A (hg19) ; chr7:g.33096554C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096554C>A , CM000669.2:g.33096554C>A	GRCh38
NC_000007.13:g.33136166C>A , CM000669.1:g.33136166C>A	GRCh37
NC_000007.12:g.33102691C>A	NCBI36
NG_012968.1:g.17837G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2379G>T
ENST00000492391.2:n.1530G>T
ENST00000682645.1:n.3477G>T
ENST00000683432.1:c.*581G>T	ENSP00000508174.1:n.*581G>T
ENST00000684207.1:c.406G>T	ENSP00000506942.1:p.Ala136Ser
ENST00000297157.8:c.406G>T MANE Select	ENSP00000297157.3:p.Ala136Ser
ENST00000297157.7:c.406G>T	ENSP00000297157.3:p.Ala136Ser
ENST00000448915.1:c.304G>T	ENSP00000411577.1:p.Ala102Ser
NM_203288.1:c.406G>T	NP_976033.1:p.Ala136Ser
XM_011515468.1:c.304G>T	XP_011513770.1:p.Ala102Ser
XM_011515468.3:c.304G>T	XP_011513770.1:p.Ala102Ser
NM_203288.2:c.406G>T MANE Select	NP_976033.1:p.Ala136Ser