Canonical Allele Identifier: CA6778762

Gene: MMAB

Linked Data

• ClinVar Variation Id: 307076
• ClinVar RCV Id: RCV000384506 ; RCV003977893
• dbSNP Id: rs111678627
• ExAC: 12:109994908 A / G
• gnomAD v2: 12-109994908-A-G
• gnomAD v3: 12-109557103-A-G
• gnomAD v4: 12-109557103-A-G
• MyVariant Identifiers: chr12:g.109994908A>G (hg19) ; chr12:g.109557103A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557103A>G , CM000674.2:g.109557103A>G	GRCh38
NC_000012.11:g.109994908A>G , CM000674.1:g.109994908A>G	GRCh37
NC_000012.10:g.108479291A>G	NCBI36
NG_007096.1:g.21395T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.678T>C MANE Select	ENSP00000445920.1:p.Tyr226=
ENST00000537496.5:c.*243T>C	ENSP00000444793.1:n.*243T>C
ENST00000540016.5:c.522T>C	ENSP00000474582.1:p.Tyr174=
ENST00000541763.6:c.903T>C	ENSP00000474981.1:n.903T>C
ENST00000544051.5:c.*559T>C	ENSP00000438079.1:n.*559T>C
ENST00000545712.6:c.678T>C	ENSP00000445920.1:p.Tyr226=
NM_052845.3:c.678T>C	NP_443077.1:p.Tyr226=
NR_038118.1:n.838T>C
XM_011538266.1:c.*25T>C	XP_011536568.1:n.*25T>C
XM_011538267.1:c.*25T>C	XP_011536569.1:n.*25T>C
XM_011538268.1:c.405T>C	XP_011536570.1:p.Tyr135=
XM_011538269.1:c.402T>C	XP_011536571.1:p.Tyr134=
XM_011538267.3:c.*25T>C	XP_011536569.1:n.*25T>C
XM_011538268.2:c.405T>C	XP_011536570.1:p.Tyr135=
XM_011538269.2:c.402T>C	XP_011536571.1:p.Tyr134=
NM_052845.4:c.678T>C MANE Select	NP_443077.1:p.Tyr226=
NR_038118.2:n.789T>C