Canonical Allele Identifier: CA454342400

Gene: RP9

Linked Data

• gnomAD v4: 7-33096531-G-A
• MyVariant Identifiers: chr7:g.33136143G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096531G>A , CM000669.2:g.33096531G>A	GRCh38
NC_000007.13:g.33136143G>A , CM000669.1:g.33136143G>A	GRCh37
NC_000007.12:g.33102668G>A	NCBI36
NG_012968.1:g.17860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2402C>T
ENST00000492391.2:n.1553C>T
ENST00000682645.1:n.3500C>T
ENST00000683432.1:c.*604C>T	ENSP00000508174.1:n.*604C>T
ENST00000684207.1:c.429C>T	ENSP00000506942.1:p.Asp143=
ENST00000297157.8:c.429C>T MANE Select	ENSP00000297157.3:p.Asp143=
ENST00000297157.7:c.429C>T	ENSP00000297157.3:p.Asp143=
ENST00000448915.1:c.327C>T	ENSP00000411577.1:p.Asp109=
NM_203288.1:c.429C>T	NP_976033.1:p.Asp143=
XM_011515468.1:c.327C>T	XP_011513770.1:p.Asp109=
XM_011515468.3:c.327C>T	XP_011513770.1:p.Asp109=
NM_203288.2:c.429C>T MANE Select	NP_976033.1:p.Asp143=