Canonical Allele Identifier: CA2620811221

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573237A>G , CM000674.2:g.109573237A>G	GRCh38
NC_000012.11:g.110011042A>G , CM000674.1:g.110011042A>G	GRCh37
NC_000012.10:g.108495425A>G	NCBI36
NG_007096.1:g.5261T>C
NG_007702.1:g.4543A>G , LRG_156:g.4543A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.134+110T>C MANE Select	NP_443077.1:n.134+110T>C
ENST00000545712.7:c.134+110T>C MANE Select	ENSP00000445920.1:n.134+110T>C
NM_052845.3:c.134+110T>C	NP_443077.1:n.134+110T>C
NR_038118.1:n.207+110T>C
NR_038118.2:n.158+110T>C
ENST00000420167.6:c.134+110T>C	ENSP00000416136.2:n.134+110T>C
ENST00000503497.7:c.134+110T>C	ENSP00000474881.1:n.134+110T>C
ENST00000536760.1:n.137+110T>C
ENST00000537236.2:c.134+110T>C	ENSP00000483818.1:n.134+110T>C
ENST00000537496.5:c.134+110T>C	ENSP00000444793.1:n.134+110T>C
ENST00000540016.5:c.134+110T>C	ENSP00000474582.1:n.134+110T>C
ENST00000541763.6:c.134+110T>C	ENSP00000474981.1:n.134+110T>C
ENST00000542390.5:n.161+110T>C
ENST00000544051.5:c.134+110T>C	ENSP00000438079.1:n.134+110T>C
ENST00000545712.6:c.134+110T>C	ENSP00000445920.1:n.134+110T>C
XM_024448961.1:c.134+110T>C	XP_024304729.1:n.134+110T>C