Canonical Allele Identifier: CA359331318
Gene: C5orf22 HGNC NCBI

Linked Data

dbSNP Id: rs1247580074
gnomAD v2: 5-31532516-G-A
gnomAD v3: 5-31532409-G-A
gnomAD v4: 5-31532409-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.31532409G>A , CM000667.2:g.31532409G>A GRCh38
NC_000005.9:g.31532516G>A , CM000667.1:g.31532516G>A GRCh37
NC_000005.8:g.31568273G>A NCBI36
NG_051574.1:g.4767C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000325366.14:c.17G>A MANE Select ENSP00000326879.9:p.Gly6Glu
ENST00000325366.13:c.17G>A ENSP00000326879.9:p.Gly6Glu
ENST00000504464.5:c.17G>A ENSP00000430261.1:p.Gly6Glu
ENST00000507818.6:c.17G>A ENSP00000430860.1:p.Gly6Glu
ENST00000510659.5:c.17G>A ENSP00000423039.1:p.Gly6Glu
ENST00000511208.2:c.17G>A ENSP00000428898.1:p.Gly6Glu
ENST00000513967.5:c.17G>A ENSP00000421667.1:p.Gly6Glu
ENST00000515409.5:n.115G>A
ENST00000517780.1:n.115G>A
NM_018356.2:c.17G>A NP_060826.2:p.Gly6Glu
XM_005248319.2:c.-555G>A XP_005248376.1:n.-555G>A
XM_006714479.1:c.-144G>A XP_006714542.1:n.-144G>A
XM_006714480.2:c.-466G>A XP_006714543.1:n.-466G>A
XM_011514062.1:c.17G>A XP_011512364.1:p.Gly6Glu
NR_134298.1:n.144G>A
XM_006714479.2:c.-144G>A XP_006714542.1:n.-144G>A
XM_006714480.3:c.-466G>A XP_006714543.1:n.-466G>A
XM_011514062.3:c.17G>A XP_011512364.1:p.Gly6Glu
XM_017009607.1:c.17G>A XP_016865096.1:p.Gly6Glu
XM_017009608.2:c.17G>A XP_016865097.1:p.Gly6Glu
XM_017009609.1:c.-144G>A XP_016865098.1:n.-144G>A
XM_017009610.1:c.-558G>A XP_016865099.1:n.-558G>A
XM_017009611.2:c.-555G>A XP_016865100.1:n.-555G>A
XM_017009612.2:c.-466G>A XP_016865101.1:n.-466G>A
XM_017009613.2:c.-558G>A XP_016865102.1:n.-558G>A
XM_017009614.1:c.-651G>A XP_016865103.1:n.-651G>A
XM_017009615.1:c.-559G>A XP_016865104.1:n.-559G>A
XM_017009616.1:c.-463G>A XP_016865105.1:n.-463G>A
NM_018356.3:c.17G>A MANE Select NP_060826.2:p.Gly6Glu
NR_134298.2:n.109G>A