Canonical Allele Identifier: CA3218120

Gene: C5orf22

Linked Data

• dbSNP Id: rs758958132
• ExAC: 5:31532555 T / C
• gnomAD v2: 5-31532555-T-C
• gnomAD v3: 5-31532448-T-C
• gnomAD v4: 5-31532448-T-C
• MyVariant Identifiers: chr5:g.31532555T>C (hg19) ; chr5:g.31532448T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.31532448T>C , CM000667.2:g.31532448T>C	GRCh38
NC_000005.9:g.31532555T>C , CM000667.1:g.31532555T>C	GRCh37
NC_000005.8:g.31568312T>C	NCBI36
NG_051574.1:g.4728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000325366.14:c.56T>C MANE Select	ENSP00000326879.9:p.Val19Ala
ENST00000325366.13:c.56T>C	ENSP00000326879.9:p.Val19Ala
ENST00000504464.5:c.56T>C	ENSP00000430261.1:p.Val19Ala
ENST00000507818.6:c.56T>C	ENSP00000430860.1:p.Val19Ala
ENST00000510659.5:c.56T>C	ENSP00000423039.1:p.Val19Ala
ENST00000511208.2:c.56T>C	ENSP00000428898.1:p.Val19Ala
ENST00000513967.5:c.56T>C	ENSP00000421667.1:p.Val19Ala
ENST00000515409.5:n.154T>C
ENST00000517780.1:n.154T>C
NM_018356.2:c.56T>C	NP_060826.2:p.Val19Ala
XM_005248319.2:c.-516T>C	XP_005248376.1:n.-516T>C
XM_006714479.1:c.-105T>C	XP_006714542.1:n.-105T>C
XM_006714480.2:c.-427T>C	XP_006714543.1:n.-427T>C
XM_011514062.1:c.56T>C	XP_011512364.1:p.Val19Ala
NR_134298.1:n.183T>C
XM_006714479.2:c.-105T>C	XP_006714542.1:n.-105T>C
XM_006714480.3:c.-427T>C	XP_006714543.1:n.-427T>C
XM_011514062.3:c.56T>C	XP_011512364.1:p.Val19Ala
XM_017009607.1:c.56T>C	XP_016865096.1:p.Val19Ala
XM_017009608.2:c.56T>C	XP_016865097.1:p.Val19Ala
XM_017009609.1:c.-105T>C	XP_016865098.1:n.-105T>C
XM_017009610.1:c.-519T>C	XP_016865099.1:n.-519T>C
XM_017009611.2:c.-516T>C	XP_016865100.1:n.-516T>C
XM_017009612.2:c.-427T>C	XP_016865101.1:n.-427T>C
XM_017009613.2:c.-519T>C	XP_016865102.1:n.-519T>C
XM_017009614.1:c.-612T>C	XP_016865103.1:n.-612T>C
XM_017009615.1:c.-520T>C	XP_016865104.1:n.-520T>C
XM_017009616.1:c.-424T>C	XP_016865105.1:n.-424T>C
NM_018356.3:c.56T>C MANE Select	NP_060826.2:p.Val19Ala
NR_134298.2:n.148T>C