Canonical Allele Identifier: CA386635663

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994909T>A (hg19) ; chr12:g.109557104T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.677A>T MANE Select	ENSP00000445920.1:p.Tyr226Phe
ENST00000537496.5:c.*242A>T	ENSP00000444793.1:n.*242A>T
ENST00000540016.5:c.521A>T	ENSP00000474582.1:p.Tyr174Phe
ENST00000541763.6:c.902A>T	ENSP00000474981.1:n.902A>T
ENST00000544051.5:c.*558A>T	ENSP00000438079.1:n.*558A>T
ENST00000545712.6:c.677A>T	ENSP00000445920.1:p.Tyr226Phe
NM_052845.3:c.677A>T	NP_443077.1:p.Tyr226Phe
NR_038118.1:n.837A>T
XM_011538266.1:c.*24A>T	XP_011536568.1:n.*24A>T
XM_011538267.1:c.*24A>T	XP_011536569.1:n.*24A>T
XM_011538268.1:c.404A>T	XP_011536570.1:p.Tyr135Phe
XM_011538269.1:c.401A>T	XP_011536571.1:p.Tyr134Phe
XM_011538267.3:c.*24A>T	XP_011536569.1:n.*24A>T
XM_011538268.2:c.404A>T	XP_011536570.1:p.Tyr135Phe
XM_011538269.2:c.401A>T	XP_011536571.1:p.Tyr134Phe
NM_052845.4:c.677A>T MANE Select	NP_443077.1:p.Tyr226Phe
NR_038118.2:n.788A>T