Canonical Allele Identifier: CA359331347
Gene: C5orf22 HGNC NCBI

Linked Data

dbSNP Id: rs1741590471
gnomAD v4: 5-31532426-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.31532426C>T , CM000667.2:g.31532426C>T GRCh38
NC_000005.9:g.31532533C>T , CM000667.1:g.31532533C>T GRCh37
NC_000005.8:g.31568290C>T NCBI36
NG_051574.1:g.4750G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000325366.14:c.34C>T MANE Select ENSP00000326879.9:p.Arg12Trp
ENST00000325366.13:c.34C>T ENSP00000326879.9:p.Arg12Trp
ENST00000504464.5:c.34C>T ENSP00000430261.1:p.Arg12Trp
ENST00000507818.6:c.34C>T ENSP00000430860.1:p.Arg12Trp
ENST00000510659.5:c.34C>T ENSP00000423039.1:p.Arg12Trp
ENST00000511208.2:c.34C>T ENSP00000428898.1:p.Arg12Trp
ENST00000513967.5:c.34C>T ENSP00000421667.1:p.Arg12Trp
ENST00000515409.5:n.132C>T
ENST00000517780.1:n.132C>T
NM_018356.2:c.34C>T NP_060826.2:p.Arg12Trp
XM_005248319.2:c.-538C>T XP_005248376.1:n.-538C>T
XM_006714479.1:c.-127C>T XP_006714542.1:n.-127C>T
XM_006714480.2:c.-449C>T XP_006714543.1:n.-449C>T
XM_011514062.1:c.34C>T XP_011512364.1:p.Arg12Trp
NR_134298.1:n.161C>T
XM_006714479.2:c.-127C>T XP_006714542.1:n.-127C>T
XM_006714480.3:c.-449C>T XP_006714543.1:n.-449C>T
XM_011514062.3:c.34C>T XP_011512364.1:p.Arg12Trp
XM_017009607.1:c.34C>T XP_016865096.1:p.Arg12Trp
XM_017009608.2:c.34C>T XP_016865097.1:p.Arg12Trp
XM_017009609.1:c.-127C>T XP_016865098.1:n.-127C>T
XM_017009610.1:c.-541C>T XP_016865099.1:n.-541C>T
XM_017009611.2:c.-538C>T XP_016865100.1:n.-538C>T
XM_017009612.2:c.-449C>T XP_016865101.1:n.-449C>T
XM_017009613.2:c.-541C>T XP_016865102.1:n.-541C>T
XM_017009614.1:c.-634C>T XP_016865103.1:n.-634C>T
XM_017009615.1:c.-542C>T XP_016865104.1:n.-542C>T
XM_017009616.1:c.-446C>T XP_016865105.1:n.-446C>T
NM_018356.3:c.34C>T MANE Select NP_060826.2:p.Arg12Trp
NR_134298.2:n.126C>T