Canonical Allele Identifier: CA312716

Gene: MMAB

Linked Data

• ClinVar Variation Id: 203819
• ClinVar RCV Id: RCV000186018 ; RCV000203392 ; RCV001420745
• dbSNP Id: rs756414548
• ExAC: 12:109998860 C / T
• gnomAD v2: 12-109998860-C-T
• gnomAD v3: 12-109561055-C-T
• gnomAD v4: 12-109561055-C-T
• MyVariant Identifiers: chr12:g.109998860C>T (hg19) ; chr12:g.109561055C>T (hg38)
• PubMed: PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561055C>T , CM000674.2:g.109561055C>T	GRCh38
NC_000012.11:g.109998860C>T , CM000674.1:g.109998860C>T	GRCh37
NC_000012.10:g.108483243C>T	NCBI36
NG_007096.1:g.17443G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.569G>A MANE Select	ENSP00000445920.1:p.Arg190His
ENST00000537496.5:c.*134G>A	ENSP00000444793.1:n.*134G>A
ENST00000540016.5:c.413G>A	ENSP00000474582.1:p.Arg138His
ENST00000541763.6:c.794G>A	ENSP00000474981.1:n.794G>A
ENST00000544051.5:c.*450G>A	ENSP00000438079.1:n.*450G>A
ENST00000545712.6:c.569G>A	ENSP00000445920.1:p.Arg190His
NM_052845.3:c.569G>A	NP_443077.1:p.Arg190His
NR_038118.1:n.729G>A
XM_011538266.1:c.414G>A	XP_011536568.1:p.Pro138=
XM_011538267.1:c.414G>A	XP_011536569.1:p.Pro138=
XM_011538268.1:c.296G>A	XP_011536570.1:p.Arg99His
XM_011538269.1:c.293G>A	XP_011536571.1:p.Arg98His
XM_011538267.3:c.414G>A	XP_011536569.1:p.Pro138=
XM_011538268.2:c.296G>A	XP_011536570.1:p.Arg99His
XM_011538269.2:c.293G>A	XP_011536571.1:p.Arg98His
XM_024448961.1:c.569G>A	XP_024304729.1:p.Arg190His
NM_052845.4:c.569G>A MANE Select	NP_443077.1:p.Arg190His
NR_038118.2:n.680G>A