Canonical Allele Identifier: CA6778669

Gene: MMAB

Linked Data

• ClinVar Variation Id: 307054
• ClinVar RCV Id: RCV000357397
• dbSNP Id: rs56760240
• ExAC: 12:109994269 C / G
• gnomAD v2: 12-109994269-C-G
• gnomAD v3: 12-109556464-C-G
• gnomAD v4: 12-109556464-C-G
• MyVariant Identifiers: chr12:g.109994269C>G (hg19) ; chr12:g.109556464C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556464C>G , CM000674.2:g.109556464C>G	GRCh38
NC_000012.11:g.109994269C>G , CM000674.1:g.109994269C>G	GRCh37
NC_000012.10:g.108478652C>G	NCBI36
NG_007096.1:g.22034G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*564G>C MANE Select	ENSP00000445920.1:n.*564G>C
ENST00000545712.6:c.*564G>C	ENSP00000445920.1:n.*564G>C
NM_052845.3:c.*564G>C	NP_443077.1:n.*564G>C
NR_038118.1:n.1477G>C
NM_052845.4:c.*564G>C MANE Select	NP_443077.1:n.*564G>C
NR_038118.2:n.1428G>C