Canonical Allele Identifier: CA3218125

Gene: C5orf22

Linked Data

• dbSNP Id: rs750773413
• ExAC: 5:31532570 A / T
• gnomAD v2: 5-31532570-A-T
• gnomAD v4: 5-31532463-A-T
• COSMIC: COSM5502945
• MyVariant Identifiers: chr5:g.31532570A>T (hg19) ; chr5:g.31532463A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.31532463A>T , CM000667.2:g.31532463A>T	GRCh38
NC_000005.9:g.31532570A>T , CM000667.1:g.31532570A>T	GRCh37
NC_000005.8:g.31568327A>T	NCBI36
NG_051574.1:g.4713T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325366.14:c.71A>T MANE Select	ENSP00000326879.9:p.Asp24Val
ENST00000325366.13:c.71A>T	ENSP00000326879.9:p.Asp24Val
ENST00000504464.5:c.71A>T	ENSP00000430261.1:p.Asp24Val
ENST00000507818.6:c.71A>T	ENSP00000430860.1:p.Asp24Val
ENST00000510659.5:c.71A>T	ENSP00000423039.1:p.Asp24Val
ENST00000511208.2:c.71A>T	ENSP00000428898.1:p.Asp24Val
ENST00000513967.5:c.71A>T	ENSP00000421667.1:p.Asp24Val
ENST00000515409.5:n.169A>T
ENST00000517780.1:n.169A>T
NM_018356.2:c.71A>T	NP_060826.2:p.Asp24Val
XM_005248319.2:c.-501A>T	XP_005248376.1:n.-501A>T
XM_006714479.1:c.-90A>T	XP_006714542.1:n.-90A>T
XM_006714480.2:c.-412A>T	XP_006714543.1:n.-412A>T
XM_011514062.1:c.71A>T	XP_011512364.1:p.Asp24Val
NR_134298.1:n.198A>T
XM_006714479.2:c.-90A>T	XP_006714542.1:n.-90A>T
XM_006714480.3:c.-412A>T	XP_006714543.1:n.-412A>T
XM_011514062.3:c.71A>T	XP_011512364.1:p.Asp24Val
XM_017009607.1:c.71A>T	XP_016865096.1:p.Asp24Val
XM_017009608.2:c.71A>T	XP_016865097.1:p.Asp24Val
XM_017009609.1:c.-90A>T	XP_016865098.1:n.-90A>T
XM_017009610.1:c.-504A>T	XP_016865099.1:n.-504A>T
XM_017009611.2:c.-501A>T	XP_016865100.1:n.-501A>T
XM_017009612.2:c.-412A>T	XP_016865101.1:n.-412A>T
XM_017009613.2:c.-504A>T	XP_016865102.1:n.-504A>T
XM_017009614.1:c.-597A>T	XP_016865103.1:n.-597A>T
XM_017009615.1:c.-505A>T	XP_016865104.1:n.-505A>T
XM_017009616.1:c.-409A>T	XP_016865105.1:n.-409A>T
NM_018356.3:c.71A>T MANE Select	NP_060826.2:p.Asp24Val
NR_134298.2:n.163A>T