Canonical Allele Identifier: CA6778654

Gene: MMAB

Linked Data

• ClinVar Variation Id: 307047
• ClinVar RCV Id: RCV000309656
• dbSNP Id: rs877710
• ExAC: 12:109993976 C / G
• gnomAD v2: 12-109993976-C-G
• gnomAD v3: 12-109556171-C-G
• gnomAD v4: 12-109556171-C-G
• MyVariant Identifiers: chr12:g.109993976C>G (hg19) ; chr12:g.109556171C>G (hg38)
• Allelic Epigenome: Alellic Epigenome (raw data)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556171C>G , CM000674.2:g.109556171C>G	GRCh38
NC_000012.11:g.109993976C>G , CM000674.1:g.109993976C>G	GRCh37
NC_000012.10:g.108478359C>G	NCBI36
NG_007096.1:g.22327G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*857G>C MANE Select	ENSP00000445920.1:n.*857G>C
ENST00000545712.6:c.*857G>C	ENSP00000445920.1:n.*857G>C
NM_052845.3:c.*857G>C	NP_443077.1:n.*857G>C
NR_038118.1:n.1770G>C
NM_052845.4:c.*857G>C MANE Select	NP_443077.1:n.*857G>C
NR_038118.2:n.1721G>C