Canonical Allele Identifier: CA2575285370

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109556985C>A , CM000674.2:g.109556985C>A	GRCh38
NC_000012.11:g.109994790C>A , CM000674.1:g.109994790C>A	GRCh37
NC_000012.10:g.108479173C>A	NCBI36
NG_007096.1:g.21513G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.*43G>T MANE Select	ENSP00000445920.1:n.*43G>T
ENST00000537496.5:c.*361G>T	ENSP00000444793.1:n.*361G>T
ENST00000540016.5:c.*43G>T	ENSP00000474582.1:n.*43G>T
ENST00000541763.6:c.1021G>T	ENSP00000474981.1:n.1021G>T
ENST00000544051.5:c.*677G>T	ENSP00000438079.1:n.*677G>T
ENST00000545712.6:c.*43G>T	ENSP00000445920.1:n.*43G>T
NM_052845.3:c.*43G>T	NP_443077.1:n.*43G>T
NR_038118.1:n.956G>T
XM_011538266.1:c.*143G>T	XP_011536568.1:n.*143G>T
XM_011538267.1:c.*143G>T	XP_011536569.1:n.*143G>T
XM_011538268.1:c.*43G>T	XP_011536570.1:n.*43G>T
XM_011538269.1:c.*43G>T	XP_011536571.1:n.*43G>T
XM_011538267.3:c.*143G>T	XP_011536569.1:n.*143G>T
XM_011538268.2:c.*43G>T	XP_011536570.1:n.*43G>T
XM_011538269.2:c.*43G>T	XP_011536571.1:n.*43G>T
NM_052845.4:c.*43G>T MANE Select	NP_443077.1:n.*43G>T
NR_038118.2:n.907G>T