Canonical Allele Identifier: CA6778843

Gene: MMAB

Linked Data

• ClinVar Variation Id: 2901310
• ClinVar RCV Id: RCV003608644
• dbSNP Id: rs768064952
• ExAC: 12:109998929 T / C
• gnomAD v2: 12-109998929-T-C
• gnomAD v4: 12-109561124-T-C
• MyVariant Identifiers: chr12:g.109998929T>C (hg19) ; chr12:g.109561124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561124T>C , CM000674.2:g.109561124T>C	GRCh38
NC_000012.11:g.109998929T>C , CM000674.1:g.109998929T>C	GRCh37
NC_000012.10:g.108483312T>C	NCBI36
NG_007096.1:g.17374A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.520-20A>G MANE Select	ENSP00000445920.1:n.520-20A>G
ENST00000537496.5:c.*85-20A>G	ENSP00000444793.1:n.*85-20A>G
ENST00000540016.5:c.364-20A>G	ENSP00000474582.1:n.364-20A>G
ENST00000541763.6:c.725A>G	ENSP00000474981.1:n.725A>G
ENST00000544051.5:c.*401-20A>G	ENSP00000438079.1:n.*401-20A>G
ENST00000545712.6:c.520-20A>G	ENSP00000445920.1:n.520-20A>G
NM_052845.3:c.520-20A>G	NP_443077.1:n.520-20A>G
NR_038118.1:n.680-20A>G
XM_011538266.1:c.365-20A>G	XP_011536568.1:n.365-20A>G
XM_011538267.1:c.365-20A>G	XP_011536569.1:n.365-20A>G
XM_011538268.1:c.247-20A>G	XP_011536570.1:n.247-20A>G
XM_011538269.1:c.244-20A>G	XP_011536571.1:n.244-20A>G
XM_011538267.3:c.365-20A>G	XP_011536569.1:n.365-20A>G
XM_011538268.2:c.247-20A>G	XP_011536570.1:n.247-20A>G
XM_011538269.2:c.244-20A>G	XP_011536571.1:n.244-20A>G
XM_024448961.1:c.520-20A>G	XP_024304729.1:n.520-20A>G
NM_052845.4:c.520-20A>G MANE Select	NP_443077.1:n.520-20A>G
NR_038118.2:n.631-20A>G