Canonical Allele Identifier: CA6558696

Gene: BCDIN3D

Linked Data

• ClinVar Variation Id: 254103
• ClinVar RCV Id: RCV000240071 ; RCV000950779
• dbSNP Id: rs143608766
• ExAC: 12:50236848 T / C
• gnomAD v2: 12-50236848-T-C
• gnomAD v3: 12-49843065-T-C
• gnomAD v4: 12-49843065-T-C
• MyVariant Identifiers: chr12:g.50236848T>C (hg19) ; chr12:g.49843065T>C (hg38)
• PubMed: PMID:28299356

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49843065T>C , CM000674.2:g.49843065T>C	GRCh38
NC_000012.11:g.50236848T>C , CM000674.1:g.50236848T>C	GRCh37
NC_000012.10:g.48523115T>C	NCBI36
NG_053175.1:g.5065A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333924.6:c.23A>G MANE Select	ENSP00000335201.4:p.Asp8Gly
ENST00000333924.5:c.23A>G	ENSP00000335201.4:p.Asp8Gly
ENST00000550861.1:n.30A>G
NM_181708.2:c.23A>G	NP_859059.1:p.Asp8Gly
NM_181708.3:c.23A>G MANE Select	NP_859059.1:p.Asp8Gly