Canonical Allele Identifier: CA3218107

Gene: C5orf22

Linked Data

• ClinVar Variation Id: 2238744
• ClinVar RCV Id: RCV004100960
• dbSNP Id: rs765635289
• ExAC: 5:31532512 G / A
• gnomAD v2: 5-31532512-G-A
• gnomAD v3: 5-31532405-G-A
• gnomAD v4: 5-31532405-G-A
• MyVariant Identifiers: chr5:g.31532512G>A (hg19) ; chr5:g.31532405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.31532405G>A , CM000667.2:g.31532405G>A	GRCh38
NC_000005.9:g.31532512G>A , CM000667.1:g.31532512G>A	GRCh37
NC_000005.8:g.31568269G>A	NCBI36
NG_051574.1:g.4771C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325366.14:c.13G>A MANE Select	ENSP00000326879.9:p.Ala5Thr
ENST00000325366.13:c.13G>A	ENSP00000326879.9:p.Ala5Thr
ENST00000504464.5:c.13G>A	ENSP00000430261.1:p.Ala5Thr
ENST00000507818.6:c.13G>A	ENSP00000430860.1:p.Ala5Thr
ENST00000510659.5:c.13G>A	ENSP00000423039.1:p.Ala5Thr
ENST00000511208.2:c.13G>A	ENSP00000428898.1:p.Ala5Thr
ENST00000513967.5:c.13G>A	ENSP00000421667.1:p.Ala5Thr
ENST00000515409.5:n.111G>A
ENST00000517780.1:n.111G>A
NM_018356.2:c.13G>A	NP_060826.2:p.Ala5Thr
XM_005248319.2:c.-559G>A	XP_005248376.1:n.-559G>A
XM_006714479.1:c.-148G>A	XP_006714542.1:n.-148G>A
XM_006714480.2:c.-470G>A	XP_006714543.1:n.-470G>A
XM_011514062.1:c.13G>A	XP_011512364.1:p.Ala5Thr
NR_134298.1:n.140G>A
XM_006714479.2:c.-148G>A	XP_006714542.1:n.-148G>A
XM_006714480.3:c.-470G>A	XP_006714543.1:n.-470G>A
XM_011514062.3:c.13G>A	XP_011512364.1:p.Ala5Thr
XM_017009607.1:c.13G>A	XP_016865096.1:p.Ala5Thr
XM_017009608.2:c.13G>A	XP_016865097.1:p.Ala5Thr
XM_017009609.1:c.-148G>A	XP_016865098.1:n.-148G>A
XM_017009610.1:c.-562G>A	XP_016865099.1:n.-562G>A
XM_017009611.2:c.-559G>A	XP_016865100.1:n.-559G>A
XM_017009612.2:c.-470G>A	XP_016865101.1:n.-470G>A
XM_017009613.2:c.-562G>A	XP_016865102.1:n.-562G>A
XM_017009614.1:c.-655G>A	XP_016865103.1:n.-655G>A
XM_017009615.1:c.-563G>A	XP_016865104.1:n.-563G>A
XM_017009616.1:c.-467G>A	XP_016865105.1:n.-467G>A
NM_018356.3:c.13G>A MANE Select	NP_060826.2:p.Ala5Thr
NR_134298.2:n.105G>A