Canonical Allele Identifier: CA386637013

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109998891A>T (hg19) ; chr12:g.109561086A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561086A>T , CM000674.2:g.109561086A>T	GRCh38
NC_000012.11:g.109998891A>T , CM000674.1:g.109998891A>T	GRCh37
NC_000012.10:g.108483274A>T	NCBI36
NG_007096.1:g.17412T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.538T>A MANE Select	ENSP00000445920.1:p.Ser180Thr
ENST00000537496.5:c.*103T>A	ENSP00000444793.1:n.*103T>A
ENST00000540016.5:c.382T>A	ENSP00000474582.1:p.Ser128Thr
ENST00000541763.6:c.763T>A	ENSP00000474981.1:n.763T>A
ENST00000544051.5:c.*419T>A	ENSP00000438079.1:n.*419T>A
ENST00000545712.6:c.538T>A	ENSP00000445920.1:p.Ser180Thr
NM_052845.3:c.538T>A	NP_443077.1:p.Ser180Thr
NR_038118.1:n.698T>A
XM_011538266.1:c.383T>A	XP_011536568.1:p.Leu128His
XM_011538267.1:c.383T>A	XP_011536569.1:p.Leu128His
XM_011538268.1:c.265T>A	XP_011536570.1:p.Ser89Thr
XM_011538269.1:c.262T>A	XP_011536571.1:p.Ser88Thr
XM_011538267.3:c.383T>A	XP_011536569.1:p.Leu128His
XM_011538268.2:c.265T>A	XP_011536570.1:p.Ser89Thr
XM_011538269.2:c.262T>A	XP_011536571.1:p.Ser88Thr
XM_024448961.1:c.538T>A	XP_024304729.1:p.Ser180Thr
NM_052845.4:c.538T>A MANE Select	NP_443077.1:p.Ser180Thr
NR_038118.2:n.649T>A