Canonical Allele Identifier: CA6778764

Gene: MMAB

Linked Data

• ClinVar Variation Id: 513507
• ClinVar RCV Id: RCV000611461 ; RCV000880841
• dbSNP Id: rs369296142
• ExAC: 12:109994920 C / T
• gnomAD v2: 12-109994920-C-T
• gnomAD v3: 12-109557115-C-T
• gnomAD v4: 12-109557115-C-T
• MyVariant Identifiers: chr12:g.109994920C>T (hg19) ; chr12:g.109557115C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557115C>T , CM000674.2:g.109557115C>T	GRCh38
NC_000012.11:g.109994920C>T , CM000674.1:g.109994920C>T	GRCh37
NC_000012.10:g.108479303C>T	NCBI36
NG_007096.1:g.21383G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.666G>A MANE Select	ENSP00000445920.1:p.Thr222=
ENST00000537496.5:c.*231G>A	ENSP00000444793.1:n.*231G>A
ENST00000540016.5:c.510G>A	ENSP00000474582.1:p.Thr170=
ENST00000541763.6:c.891G>A	ENSP00000474981.1:n.891G>A
ENST00000544051.5:c.*547G>A	ENSP00000438079.1:n.*547G>A
ENST00000545712.6:c.666G>A	ENSP00000445920.1:p.Thr222=
NM_052845.3:c.666G>A	NP_443077.1:p.Thr222=
NR_038118.1:n.826G>A
XM_011538266.1:c.*13G>A	XP_011536568.1:n.*13G>A
XM_011538267.1:c.*13G>A	XP_011536569.1:n.*13G>A
XM_011538268.1:c.393G>A	XP_011536570.1:p.Thr131=
XM_011538269.1:c.390G>A	XP_011536571.1:p.Thr130=
XM_011538267.3:c.*13G>A	XP_011536569.1:n.*13G>A
XM_011538268.2:c.393G>A	XP_011536570.1:p.Thr131=
XM_011538269.2:c.390G>A	XP_011536571.1:p.Thr130=
NM_052845.4:c.666G>A MANE Select	NP_443077.1:p.Thr222=
NR_038118.2:n.777G>A