Canonical Allele Identifier: CA6778994

Gene: MMAB

Linked Data

• dbSNP Id: rs755006914
• ExAC: 12:110006576 C / T
• gnomAD v2: 12-110006576-C-T
• gnomAD v4: 12-109568771-C-T
• MyVariant Identifiers: chr12:g.110006576C>T (hg19) ; chr12:g.109568771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568771C>T , CM000674.2:g.109568771C>T	GRCh38
NC_000012.11:g.110006576C>T , CM000674.1:g.110006576C>T	GRCh37
NC_000012.10:g.108490959C>T	NCBI36
NG_007096.1:g.9727G>A
NG_007702.1:g.77C>T , LRG_156:g.77C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.289G>A MANE Select	ENSP00000445920.1:p.Gly97Arg
ENST00000420167.6:c.*118G>A	ENSP00000416136.2:n.*118G>A
ENST00000503497.7:c.289G>A	ENSP00000474881.1:p.Gly97Arg
ENST00000536760.1:n.292G>A
ENST00000537236.2:c.289G>A	ENSP00000483818.1:p.Gly97Arg
ENST00000537496.5:c.289G>A	ENSP00000444793.1:p.Gly97Arg
ENST00000540016.5:c.135-3595G>A	ENSP00000474582.1:n.135-3595G>A
ENST00000541763.6:c.289G>A	ENSP00000474981.1:p.Gly97Arg
ENST00000542390.5:n.316G>A
ENST00000544051.5:c.*83G>A	ENSP00000438079.1:n.*83G>A
ENST00000545712.6:c.289G>A	ENSP00000445920.1:p.Gly97Arg
NM_052845.3:c.289G>A	NP_443077.1:p.Gly97Arg
NR_038118.1:n.362G>A
XM_024448961.1:c.289G>A	XP_024304729.1:p.Gly97Arg
NM_052845.4:c.289G>A MANE Select	NP_443077.1:p.Gly97Arg
NR_038118.2:n.313G>A