Canonical Allele Identifier: CA129155

Gene: CRADD

Linked Data

• ClinVar Variation Id: 30360
• ClinVar RCV Id: RCV000023305 ; RCV002285256
• dbSNP Id: rs387906861
• ExAC: 12:94243829 G / C
• gnomAD v2: 12-94243829-G-C
• gnomAD v3: 12-93850053-G-C
• gnomAD v4: 12-93850053-G-C
• MyVariant Identifiers: chr12:g.94243829G>C (hg19) ; chr12:g.93850053G>C (hg38)
• PubMed: PMID:22279524 ; PMID:27773430

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93850053G>C , CM000674.2:g.93850053G>C	GRCh38
NC_000012.11:g.94243829G>C , CM000674.1:g.94243829G>C	GRCh37
NC_000012.10:g.92767960G>C	NCBI36
NG_032159.1:g.177679G>C
NG_032159.2:g.177679G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332896.8:c.382G>C MANE Select	ENSP00000327647.3:p.Gly128Arg
ENST00000332896.7:c.382G>C	ENSP00000327647.3:p.Gly128Arg
ENST00000542893.2:c.382G>C	ENSP00000439068.2:p.Gly128Arg
ENST00000548330.1:n.767G>C
ENST00000548483.5:c.299-43997G>C	ENSP00000448685.1:n.299-43997G>C
ENST00000550030.1:n.182G>C
ENST00000551065.5:c.299-9266G>C	ENSP00000448425.1:n.299-9266G>C
ENST00000609189.1:n.158G>C
NM_003805.3:c.382G>C	NP_003796.1:p.Gly128Arg
XM_005269211.3:c.299-43997G>C	XP_005269268.1:n.299-43997G>C
NM_001320099.1:c.382G>C	NP_001307028.1:p.Gly128Arg
NM_001320100.1:c.299-43997G>C	NP_001307029.1:n.299-43997G>C
NM_003805.4:c.382G>C	NP_003796.1:p.Gly128Arg
NR_135147.1:n.407-9266G>C
XM_017020144.1:c.299-9266G>C	XP_016875633.1:n.299-9266G>C
XR_001748910.1:n.430-9266G>C
NM_003805.5:c.382G>C MANE Select	NP_003796.1:p.Gly128Arg
NM_001320099.2:c.382G>C	NP_001307028.1:p.Gly128Arg
NM_001320100.2:c.299-43997G>C	NP_001307029.1:n.299-43997G>C
NR_135147.2:n.403-9266G>C