Canonical Allele Identifier: CA386636823

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561047C>G , CM000674.2:g.109561047C>G	GRCh38
NC_000012.11:g.109998852C>G , CM000674.1:g.109998852C>G	GRCh37
NC_000012.10:g.108483235C>G	NCBI36
NG_007096.1:g.17451G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.577G>C MANE Select	NP_443077.1:p.Glu193Gln
ENST00000545712.7:c.577G>C MANE Select	ENSP00000445920.1:p.Glu193Gln
NM_052845.3:c.577G>C	NP_443077.1:p.Glu193Gln
NR_038118.1:n.737G>C
NR_038118.2:n.688G>C
ENST00000537496.5:c.*142G>C	ENSP00000444793.1:n.*142G>C
ENST00000540016.5:c.421G>C	ENSP00000474582.1:p.Glu141Gln
ENST00000541763.6:c.802G>C	ENSP00000474981.1:n.802G>C
ENST00000544051.5:c.*458G>C	ENSP00000438079.1:n.*458G>C
ENST00000545712.6:c.577G>C	ENSP00000445920.1:p.Glu193Gln
XM_011538266.1:c.422G>C	XP_011536568.1:p.Arg141Pro
XM_011538267.1:c.422G>C	XP_011536569.1:p.Arg141Pro
XM_011538267.3:c.422G>C	XP_011536569.1:p.Arg141Pro
XM_011538268.1:c.304G>C	XP_011536570.1:p.Glu102Gln
XM_011538268.2:c.304G>C	XP_011536570.1:p.Glu102Gln
XM_011538269.1:c.301G>C	XP_011536571.1:p.Glu101Gln
XM_011538269.2:c.301G>C	XP_011536571.1:p.Glu101Gln
XM_024448961.1:c.577G>C	XP_024304729.1:p.Glu193Gln