Canonical Allele Identifier: CA386635665

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557104-T-C
• MyVariant Identifiers: chr12:g.109994909T>C (hg19) ; chr12:g.109557104T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557104T>C , CM000674.2:g.109557104T>C	GRCh38
NC_000012.11:g.109994909T>C , CM000674.1:g.109994909T>C	GRCh37
NC_000012.10:g.108479292T>C	NCBI36
NG_007096.1:g.21394A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.677A>G MANE Select	ENSP00000445920.1:p.Tyr226Cys
ENST00000537496.5:c.*242A>G	ENSP00000444793.1:n.*242A>G
ENST00000540016.5:c.521A>G	ENSP00000474582.1:p.Tyr174Cys
ENST00000541763.6:c.902A>G	ENSP00000474981.1:n.902A>G
ENST00000544051.5:c.*558A>G	ENSP00000438079.1:n.*558A>G
ENST00000545712.6:c.677A>G	ENSP00000445920.1:p.Tyr226Cys
NM_052845.3:c.677A>G	NP_443077.1:p.Tyr226Cys
NR_038118.1:n.837A>G
XM_011538266.1:c.*24A>G	XP_011536568.1:n.*24A>G
XM_011538267.1:c.*24A>G	XP_011536569.1:n.*24A>G
XM_011538268.1:c.404A>G	XP_011536570.1:p.Tyr135Cys
XM_011538269.1:c.401A>G	XP_011536571.1:p.Tyr134Cys
XM_011538267.3:c.*24A>G	XP_011536569.1:n.*24A>G
XM_011538268.2:c.404A>G	XP_011536570.1:p.Tyr135Cys
XM_011538269.2:c.401A>G	XP_011536571.1:p.Tyr134Cys
NM_052845.4:c.677A>G MANE Select	NP_443077.1:p.Tyr226Cys
NR_038118.2:n.788A>G