Canonical Allele Identifier: CA6778644

Gene: MMAB

Linked Data

• ClinVar Variation Id: 307043
• ClinVar RCV Id: RCV000400826
• dbSNP Id: rs143292900
• ExAC: 12:109993766 G / A
• gnomAD v2: 12-109993766-G-A
• gnomAD v3: 12-109555961-G-A
• gnomAD v4: 12-109555961-G-A
• MyVariant Identifiers: chr12:g.109993766G>A (hg19) ; chr12:g.109555961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109555961G>A , CM000674.2:g.109555961G>A	GRCh38
NC_000012.11:g.109993766G>A , CM000674.1:g.109993766G>A	GRCh37
NC_000012.10:g.108478149G>A	NCBI36
NG_007096.1:g.22537C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*1067C>T MANE Select	ENSP00000445920.1:n.*1067C>T
ENST00000545712.6:c.*1067C>T	ENSP00000445920.1:n.*1067C>T
NM_052845.3:c.*1067C>T	NP_443077.1:n.*1067C>T
NR_038118.1:n.1980C>T
NM_052845.4:c.*1067C>T MANE Select	NP_443077.1:n.*1067C>T
NR_038118.2:n.1931C>T