Canonical Allele Identifier: CA386635591

Gene: MMAB

Linked Data

• dbSNP Id: rs1312928655
• gnomAD v2: 12-109994894-T-A
• gnomAD v3: 12-109557089-T-A
• gnomAD v4: 12-109557089-T-A
• MyVariant Identifiers: chr12:g.109994894T>A (hg19) ; chr12:g.109557089T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557089T>A , CM000674.2:g.109557089T>A	GRCh38
NC_000012.11:g.109994894T>A , CM000674.1:g.109994894T>A	GRCh37
NC_000012.10:g.108479277T>A	NCBI36
NG_007096.1:g.21409A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.692A>T MANE Select	ENSP00000445920.1:p.Glu231Val
ENST00000537496.5:c.*257A>T	ENSP00000444793.1:n.*257A>T
ENST00000540016.5:c.536A>T	ENSP00000474582.1:p.Glu179Val
ENST00000541763.6:c.917A>T	ENSP00000474981.1:n.917A>T
ENST00000544051.5:c.*573A>T	ENSP00000438079.1:n.*573A>T
ENST00000545712.6:c.692A>T	ENSP00000445920.1:p.Glu231Val
NM_052845.3:c.692A>T	NP_443077.1:p.Glu231Val
NR_038118.1:n.852A>T
XM_011538266.1:c.*39A>T	XP_011536568.1:n.*39A>T
XM_011538267.1:c.*39A>T	XP_011536569.1:n.*39A>T
XM_011538268.1:c.419A>T	XP_011536570.1:p.Glu140Val
XM_011538269.1:c.416A>T	XP_011536571.1:p.Glu139Val
XM_011538267.3:c.*39A>T	XP_011536569.1:n.*39A>T
XM_011538268.2:c.419A>T	XP_011536570.1:p.Glu140Val
XM_011538269.2:c.416A>T	XP_011536571.1:p.Glu139Val
NM_052845.4:c.692A>T MANE Select	NP_443077.1:p.Glu231Val
NR_038118.2:n.803A>T