Canonical Allele Identifier: CA684744339

Gene: CCDC92

Linked Data

• dbSNP Id: rs532944036
• gnomAD v3: 12-123942681-C-A
• gnomAD v4: 12-123942681-C-A
• MyVariant Identifiers: chr12:g.124427228C>A (hg19) ; chr12:g.123942681C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.123942681C>A , CM000674.2:g.123942681C>A	GRCh38
NC_000012.11:g.124427228C>A , CM000674.1:g.124427228C>A	GRCh37
NC_000012.10:g.122993181C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000238156.8:c.223+63G>T MANE Select	ENSP00000238156.3:n.223+63G>T
ENST00000238156.7:c.223+63G>T	ENSP00000238156.3:n.223+63G>T
ENST00000535556.5:c.172+63G>T	ENSP00000438281.1:n.172+63G>T
ENST00000539551.5:c.223+63G>T	ENSP00000442369.1:n.223+63G>T
ENST00000539761.5:c.223+63G>T	ENSP00000439441.1:n.223+63G>T
ENST00000542348.5:n.191+63G>T
ENST00000544798.2:n.287+63G>T
ENST00000545135.5:c.172+63G>T	ENSP00000439526.1:n.172+63G>T
ENST00000545891.5:c.172+63G>T	ENSP00000440024.1:n.172+63G>T
NM_001304957.1:c.223+63G>T	NP_001291886.1:n.223+63G>T
NM_001304958.1:c.223+63G>T	NP_001291887.1:n.223+63G>T
NM_001304959.1:c.223+63G>T	NP_001291888.1:n.223+63G>T
NM_001304960.1:c.223+63G>T	NP_001291889.1:n.223+63G>T
NM_001304961.1:c.172+63G>T	NP_001291890.1:n.172+63G>T
NM_025140.2:c.223+63G>T	NP_079416.1:n.223+63G>T
XM_005253624.1:c.223+63G>T	XP_005253681.1:n.223+63G>T
XM_005253624.2:c.223+63G>T	XP_005253681.1:n.223+63G>T
XM_024449192.1:c.223+63G>T	XP_024304960.1:n.223+63G>T
XM_024449193.1:c.223+63G>T	XP_024304961.1:n.223+63G>T
XM_024449194.1:c.223+63G>T	XP_024304962.1:n.223+63G>T
XM_024449195.1:c.223+63G>T	XP_024304963.1:n.223+63G>T
XM_024449196.1:c.223+63G>T	XP_024304964.1:n.223+63G>T
XM_024449197.1:c.223+63G>T	XP_024304965.1:n.223+63G>T
XM_024449199.1:c.223+63G>T	XP_024304967.1:n.223+63G>T
NM_001304957.2:c.223+63G>T	NP_001291886.1:n.223+63G>T
NM_001304958.2:c.223+63G>T	NP_001291887.1:n.223+63G>T
NM_001304959.2:c.223+63G>T	NP_001291888.1:n.223+63G>T
NM_001304960.2:c.223+63G>T	NP_001291889.1:n.223+63G>T
NM_001304961.2:c.172+63G>T	NP_001291890.1:n.172+63G>T
NM_025140.3:c.223+63G>T MANE Select	NP_079416.1:n.223+63G>T