Canonical Allele Identifier: CA386635669

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994910A>C (hg19) ; chr12:g.109557105A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557105A>C , CM000674.2:g.109557105A>C	GRCh38
NC_000012.11:g.109994910A>C , CM000674.1:g.109994910A>C	GRCh37
NC_000012.10:g.108479293A>C	NCBI36
NG_007096.1:g.21393T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.676T>G MANE Select	ENSP00000445920.1:p.Tyr226Asp
ENST00000537496.5:c.*241T>G	ENSP00000444793.1:n.*241T>G
ENST00000540016.5:c.520T>G	ENSP00000474582.1:p.Tyr174Asp
ENST00000541763.6:c.901T>G	ENSP00000474981.1:n.901T>G
ENST00000544051.5:c.*557T>G	ENSP00000438079.1:n.*557T>G
ENST00000545712.6:c.676T>G	ENSP00000445920.1:p.Tyr226Asp
NM_052845.3:c.676T>G	NP_443077.1:p.Tyr226Asp
NR_038118.1:n.836T>G
XM_011538266.1:c.*23T>G	XP_011536568.1:n.*23T>G
XM_011538267.1:c.*23T>G	XP_011536569.1:n.*23T>G
XM_011538268.1:c.403T>G	XP_011536570.1:p.Tyr135Asp
XM_011538269.1:c.400T>G	XP_011536571.1:p.Tyr134Asp
XM_011538267.3:c.*23T>G	XP_011536569.1:n.*23T>G
XM_011538268.2:c.403T>G	XP_011536570.1:p.Tyr135Asp
XM_011538269.2:c.400T>G	XP_011536571.1:p.Tyr134Asp
NM_052845.4:c.676T>G MANE Select	NP_443077.1:p.Tyr226Asp
NR_038118.2:n.787T>G