Canonical Allele Identifier: CA3218108

Gene: C5orf22

Linked Data

• dbSNP Id: rs187990737
• ExAC: 5:31532513 C / T
• gnomAD v2: 5-31532513-C-T
• gnomAD v3: 5-31532406-C-T
• gnomAD v4: 5-31532406-C-T
• MyVariant Identifiers: chr5:g.31532513C>T (hg19) ; chr5:g.31532406C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.31532406C>T , CM000667.2:g.31532406C>T	GRCh38
NC_000005.9:g.31532513C>T , CM000667.1:g.31532513C>T	GRCh37
NC_000005.8:g.31568270C>T	NCBI36
NG_051574.1:g.4770G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325366.14:c.14C>T MANE Select	ENSP00000326879.9:p.Ala5Val
ENST00000325366.13:c.14C>T	ENSP00000326879.9:p.Ala5Val
ENST00000504464.5:c.14C>T	ENSP00000430261.1:p.Ala5Val
ENST00000507818.6:c.14C>T	ENSP00000430860.1:p.Ala5Val
ENST00000510659.5:c.14C>T	ENSP00000423039.1:p.Ala5Val
ENST00000511208.2:c.14C>T	ENSP00000428898.1:p.Ala5Val
ENST00000513967.5:c.14C>T	ENSP00000421667.1:p.Ala5Val
ENST00000515409.5:n.112C>T
ENST00000517780.1:n.112C>T
NM_018356.2:c.14C>T	NP_060826.2:p.Ala5Val
XM_005248319.2:c.-558C>T	XP_005248376.1:n.-558C>T
XM_006714479.1:c.-147C>T	XP_006714542.1:n.-147C>T
XM_006714480.2:c.-469C>T	XP_006714543.1:n.-469C>T
XM_011514062.1:c.14C>T	XP_011512364.1:p.Ala5Val
NR_134298.1:n.141C>T
XM_006714479.2:c.-147C>T	XP_006714542.1:n.-147C>T
XM_006714480.3:c.-469C>T	XP_006714543.1:n.-469C>T
XM_011514062.3:c.14C>T	XP_011512364.1:p.Ala5Val
XM_017009607.1:c.14C>T	XP_016865096.1:p.Ala5Val
XM_017009608.2:c.14C>T	XP_016865097.1:p.Ala5Val
XM_017009609.1:c.-147C>T	XP_016865098.1:n.-147C>T
XM_017009610.1:c.-561C>T	XP_016865099.1:n.-561C>T
XM_017009611.2:c.-558C>T	XP_016865100.1:n.-558C>T
XM_017009612.2:c.-469C>T	XP_016865101.1:n.-469C>T
XM_017009613.2:c.-561C>T	XP_016865102.1:n.-561C>T
XM_017009614.1:c.-654C>T	XP_016865103.1:n.-654C>T
XM_017009615.1:c.-562C>T	XP_016865104.1:n.-562C>T
XM_017009616.1:c.-466C>T	XP_016865105.1:n.-466C>T
NM_018356.3:c.14C>T MANE Select	NP_060826.2:p.Ala5Val
NR_134298.2:n.106C>T