Canonical Allele Identifier: CA367181403

Gene: RP9

Linked Data

• gnomAD v4: 7-33096523-C-A
• MyVariant Identifiers: chr7:g.33136135C>A (hg19) ; chr7:g.33096523C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.33096523C>A , CM000669.2:g.33096523C>A	GRCh38
NC_000007.13:g.33136135C>A , CM000669.1:g.33136135C>A	GRCh37
NC_000007.12:g.33102660C>A	NCBI36
NG_012968.1:g.17868G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474370.2:n.2410G>T
ENST00000492391.2:n.1561G>T
ENST00000682645.1:n.3508G>T
ENST00000683432.1:c.*612G>T	ENSP00000508174.1:n.*612G>T
ENST00000684207.1:c.437G>T	ENSP00000506942.1:p.Arg146Leu
ENST00000297157.8:c.437G>T MANE Select	ENSP00000297157.3:p.Arg146Leu
ENST00000297157.7:c.437G>T	ENSP00000297157.3:p.Arg146Leu
ENST00000448915.1:c.335G>T	ENSP00000411577.1:p.Arg112Leu
NM_203288.1:c.437G>T	NP_976033.1:p.Arg146Leu
XM_011515468.1:c.335G>T	XP_011513770.1:p.Arg112Leu
XM_011515468.3:c.335G>T	XP_011513770.1:p.Arg112Leu
NM_203288.2:c.437G>T MANE Select	NP_976033.1:p.Arg146Leu