Canonical Allele Identifier: CA3218115

Gene: C5orf22

Linked Data

• dbSNP Id: rs546645613
• ExAC: 5:31532530 C / G
• gnomAD v2: 5-31532530-C-G
• gnomAD v4: 5-31532423-C-G
• MyVariant Identifiers: chr5:g.31532530C>G (hg19) ; chr5:g.31532423C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.31532423C>G , CM000667.2:g.31532423C>G	GRCh38
NC_000005.9:g.31532530C>G , CM000667.1:g.31532530C>G	GRCh37
NC_000005.8:g.31568287C>G	NCBI36
NG_051574.1:g.4753G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325366.14:c.31C>G MANE Select	ENSP00000326879.9:p.Leu11Val
ENST00000325366.13:c.31C>G	ENSP00000326879.9:p.Leu11Val
ENST00000504464.5:c.31C>G	ENSP00000430261.1:p.Leu11Val
ENST00000507818.6:c.31C>G	ENSP00000430860.1:p.Leu11Val
ENST00000510659.5:c.31C>G	ENSP00000423039.1:p.Leu11Val
ENST00000511208.2:c.31C>G	ENSP00000428898.1:p.Leu11Val
ENST00000513967.5:c.31C>G	ENSP00000421667.1:p.Leu11Val
ENST00000515409.5:n.129C>G
ENST00000517780.1:n.129C>G
NM_018356.2:c.31C>G	NP_060826.2:p.Leu11Val
XM_005248319.2:c.-541C>G	XP_005248376.1:n.-541C>G
XM_006714479.1:c.-130C>G	XP_006714542.1:n.-130C>G
XM_006714480.2:c.-452C>G	XP_006714543.1:n.-452C>G
XM_011514062.1:c.31C>G	XP_011512364.1:p.Leu11Val
NR_134298.1:n.158C>G
XM_006714479.2:c.-130C>G	XP_006714542.1:n.-130C>G
XM_006714480.3:c.-452C>G	XP_006714543.1:n.-452C>G
XM_011514062.3:c.31C>G	XP_011512364.1:p.Leu11Val
XM_017009607.1:c.31C>G	XP_016865096.1:p.Leu11Val
XM_017009608.2:c.31C>G	XP_016865097.1:p.Leu11Val
XM_017009609.1:c.-130C>G	XP_016865098.1:n.-130C>G
XM_017009610.1:c.-544C>G	XP_016865099.1:n.-544C>G
XM_017009611.2:c.-541C>G	XP_016865100.1:n.-541C>G
XM_017009612.2:c.-452C>G	XP_016865101.1:n.-452C>G
XM_017009613.2:c.-544C>G	XP_016865102.1:n.-544C>G
XM_017009614.1:c.-637C>G	XP_016865103.1:n.-637C>G
XM_017009615.1:c.-545C>G	XP_016865104.1:n.-545C>G
XM_017009616.1:c.-449C>G	XP_016865105.1:n.-449C>G
NM_018356.3:c.31C>G MANE Select	NP_060826.2:p.Leu11Val
NR_134298.2:n.123C>G