Canonical Allele Identifier: CA6778833

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561070C>T , CM000674.2:g.109561070C>T	GRCh38
NC_000012.11:g.109998875C>T , CM000674.1:g.109998875C>T	GRCh37
NC_000012.10:g.108483258C>T	NCBI36
NG_007096.1:g.17428G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.554G>A MANE Select	NP_443077.1:p.Cys185Tyr
ENST00000545712.7:c.554G>A MANE Select	ENSP00000445920.1:p.Cys185Tyr
NM_052845.3:c.554G>A	NP_443077.1:p.Cys185Tyr
NR_038118.1:n.714G>A
NR_038118.2:n.665G>A
ENST00000537496.5:c.*119G>A	ENSP00000444793.1:n.*119G>A
ENST00000540016.5:c.398G>A	ENSP00000474582.1:p.Cys133Tyr
ENST00000541763.6:c.779G>A	ENSP00000474981.1:n.779G>A
ENST00000544051.5:c.*435G>A	ENSP00000438079.1:n.*435G>A
ENST00000545712.6:c.554G>A	ENSP00000445920.1:p.Cys185Tyr
XM_011538266.1:c.399G>A	XP_011536568.1:p.Leu133=
XM_011538267.1:c.399G>A	XP_011536569.1:p.Leu133=
XM_011538267.3:c.399G>A	XP_011536569.1:p.Leu133=
XM_011538268.1:c.281G>A	XP_011536570.1:p.Cys94Tyr
XM_011538268.2:c.281G>A	XP_011536570.1:p.Cys94Tyr
XM_011538269.1:c.278G>A	XP_011536571.1:p.Cys93Tyr
XM_011538269.2:c.278G>A	XP_011536571.1:p.Cys93Tyr
XM_024448961.1:c.554G>A	XP_024304729.1:p.Cys185Tyr