Canonical Allele Identifier: CA6778826

Gene: MMAB

Linked Data

• dbSNP Id: rs779276108
• ExAC: 12:109998855 C / G
• gnomAD v2: 12-109998855-C-G
• gnomAD v4: 12-109561050-C-G
• MyVariant Identifiers: chr12:g.109998855C>G (hg19) ; chr12:g.109561050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561050C>G , CM000674.2:g.109561050C>G	GRCh38
NC_000012.11:g.109998855C>G , CM000674.1:g.109998855C>G	GRCh37
NC_000012.10:g.108483238C>G	NCBI36
NG_007096.1:g.17448G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.574G>C MANE Select	ENSP00000445920.1:p.Ala192Pro
ENST00000537496.5:c.*139G>C	ENSP00000444793.1:n.*139G>C
ENST00000540016.5:c.418G>C	ENSP00000474582.1:p.Ala140Pro
ENST00000541763.6:c.799G>C	ENSP00000474981.1:n.799G>C
ENST00000544051.5:c.*455G>C	ENSP00000438079.1:n.*455G>C
ENST00000545712.6:c.574G>C	ENSP00000445920.1:p.Ala192Pro
NM_052845.3:c.574G>C	NP_443077.1:p.Ala192Pro
NR_038118.1:n.734G>C
XM_011538266.1:c.419G>C	XP_011536568.1:p.Gly140Ala
XM_011538267.1:c.419G>C	XP_011536569.1:p.Gly140Ala
XM_011538268.1:c.301G>C	XP_011536570.1:p.Ala101Pro
XM_011538269.1:c.298G>C	XP_011536571.1:p.Ala100Pro
XM_011538267.3:c.419G>C	XP_011536569.1:p.Gly140Ala
XM_011538268.2:c.301G>C	XP_011536570.1:p.Ala101Pro
XM_011538269.2:c.298G>C	XP_011536571.1:p.Ala100Pro
XM_024448961.1:c.574G>C	XP_024304729.1:p.Ala192Pro
NM_052845.4:c.574G>C MANE Select	NP_443077.1:p.Ala192Pro
NR_038118.2:n.685G>C