Canonical Allele Identifier: CA243607794

Gene: CCDC63

Linked Data

• dbSNP Id: rs900350424
• gnomAD v3: 12-110902429-G-T
• gnomAD v4: 12-110902429-G-T
• MyVariant Identifiers: chr12:g.111340233G>T (hg19) ; chr12:g.110902429G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.110902429G>T , CM000674.2:g.110902429G>T	GRCh38
NC_000012.11:g.111340233G>T , CM000674.1:g.111340233G>T	GRCh37
NC_000012.10:g.109824616G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308208.10:c.1343-2159G>T MANE Select	ENSP00000312399.5:n.1343-2159G>T
ENST00000308208.9:c.1343-2159G>T	ENSP00000312399.5:n.1343-2159G>T
ENST00000545036.5:c.1223-2159G>T	ENSP00000445881.1:n.1223-2159G>T
ENST00000552694.1:c.1106-2159G>T	ENSP00000450217.1:n.1106-2159G>T
NM_001286243.1:c.1223-2159G>T	NP_001273172.1:n.1223-2159G>T
NM_001286244.1:c.1106-2159G>T	NP_001273173.1:n.1106-2159G>T
NM_152591.2:c.1343-2159G>T	NP_689804.1:n.1343-2159G>T
XM_006719262.1:c.1343-2159G>T	XP_006719325.1:n.1343-2159G>T
XM_006719263.2:c.1343-2159G>T	XP_006719326.1:n.1343-2159G>T
XM_011537999.1:c.1343-2159G>T	XP_011536301.1:n.1343-2159G>T
XM_011538000.1:c.1343-2159G>T	XP_011536302.1:n.1343-2159G>T
XM_011538001.1:c.1343-2159G>T	XP_011536303.1:n.1343-2159G>T
XM_011538001.2:c.1343-2159G>T	XP_011536303.1:n.1343-2159G>T
NM_001286243.2:c.1223-2159G>T	NP_001273172.1:n.1223-2159G>T
NM_001286244.2:c.1106-2159G>T	NP_001273173.1:n.1106-2159G>T
NM_152591.3:c.1343-2159G>T MANE Select	NP_689804.1:n.1343-2159G>T