Canonical Allele Identifier: CA6778626

Gene: MMAB

Linked Data

• ClinVar Variation Id: 307037
• ClinVar RCV Id: RCV000385889
• dbSNP Id: rs757325398
• ExAC: 12:109993405 G / A
• gnomAD v2: 12-109993405-G-A
• gnomAD v3: 12-109555600-G-A
• gnomAD v4: 12-109555600-G-A
• MyVariant Identifiers: chr12:g.109993405G>A (hg19) ; chr12:g.109555600G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109555600G>A , CM000674.2:g.109555600G>A	GRCh38
NC_000012.11:g.109993405G>A , CM000674.1:g.109993405G>A	GRCh37
NC_000012.10:g.108477788G>A	NCBI36
NG_007096.1:g.22898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*1428C>T MANE Select	ENSP00000445920.1:n.*1428C>T
ENST00000545712.6:c.*1428C>T	ENSP00000445920.1:n.*1428C>T
NM_052845.3:c.*1428C>T	NP_443077.1:n.*1428C>T
NR_038118.1:n.2341C>T
NM_052845.4:c.*1428C>T MANE Select	NP_443077.1:n.*1428C>T
NR_038118.2:n.2292C>T