Canonical Allele Identifier: CA359331274
Gene: C5orf22 HGNC NCBI

Linked Data

dbSNP Id: rs754455425
gnomAD v2: 5-31532500-A-G
gnomAD v3: 5-31532393-A-G
gnomAD v4: 5-31532393-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.31532393A>G , CM000667.2:g.31532393A>G GRCh38
NC_000005.9:g.31532500A>G , CM000667.1:g.31532500A>G GRCh37
NC_000005.8:g.31568257A>G NCBI36
NG_051574.1:g.4783T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000325366.14:c.1A>G MANE Select ENSP00000326879.9:p.Met1Val
ENST00000325366.13:c.1A>G ENSP00000326879.9:p.Met1Val
ENST00000504464.5:c.1A>G ENSP00000430261.1:p.Met1Val
ENST00000507818.6:c.1A>G ENSP00000430860.1:p.Met1Val
ENST00000510659.5:c.1A>G ENSP00000423039.1:p.Met1Val
ENST00000511208.2:c.1A>G ENSP00000428898.1:p.Met1Val
ENST00000513967.5:c.1A>G ENSP00000421667.1:p.Met1Val
ENST00000515409.5:n.99A>G
ENST00000517780.1:n.99A>G
NM_018356.2:c.1A>G NP_060826.2:p.Met1Val
XM_005248319.2:c.-571A>G XP_005248376.1:n.-571A>G
XM_006714479.1:c.-160A>G XP_006714542.1:n.-160A>G
XM_006714480.2:c.-482A>G XP_006714543.1:n.-482A>G
XM_011514062.1:c.1A>G XP_011512364.1:p.Met1Val
NR_134298.1:n.128A>G
XM_006714479.2:c.-160A>G XP_006714542.1:n.-160A>G
XM_006714480.3:c.-482A>G XP_006714543.1:n.-482A>G
XM_011514062.3:c.1A>G XP_011512364.1:p.Met1Val
XM_017009607.1:c.1A>G XP_016865096.1:p.Met1Val
XM_017009608.2:c.1A>G XP_016865097.1:p.Met1Val
XM_017009609.1:c.-160A>G XP_016865098.1:n.-160A>G
XM_017009610.1:c.-574A>G XP_016865099.1:n.-574A>G
XM_017009611.2:c.-571A>G XP_016865100.1:n.-571A>G
XM_017009612.2:c.-482A>G XP_016865101.1:n.-482A>G
XM_017009613.2:c.-574A>G XP_016865102.1:n.-574A>G
XM_017009614.1:c.-667A>G XP_016865103.1:n.-667A>G
XM_017009615.1:c.-575A>G XP_016865104.1:n.-575A>G
XM_017009616.1:c.-479A>G XP_016865105.1:n.-479A>G
NM_018356.3:c.1A>G MANE Select NP_060826.2:p.Met1Val
NR_134298.2:n.93A>G