Canonical Allele Identifier: CA386636808

Gene: MMAB

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561044T>C , CM000674.2:g.109561044T>C	GRCh38
NC_000012.11:g.109998849T>C , CM000674.1:g.109998849T>C	GRCh37
NC_000012.10:g.108483232T>C	NCBI36
NG_007096.1:g.17454A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_052845.4:c.580A>G MANE Select	NP_443077.1:p.Arg194Gly
ENST00000545712.7:c.580A>G MANE Select	ENSP00000445920.1:p.Arg194Gly
NM_052845.3:c.580A>G	NP_443077.1:p.Arg194Gly
NR_038118.1:n.740A>G
NR_038118.2:n.691A>G
ENST00000537496.5:c.*145A>G	ENSP00000444793.1:n.*145A>G
ENST00000540016.5:c.424A>G	ENSP00000474582.1:p.Arg142Gly
ENST00000541763.6:c.805A>G	ENSP00000474981.1:n.805A>G
ENST00000544051.5:c.*461A>G	ENSP00000438079.1:n.*461A>G
ENST00000545712.6:c.580A>G	ENSP00000445920.1:p.Arg194Gly
XM_011538266.1:c.425A>G	XP_011536568.1:p.Glu142Gly
XM_011538267.1:c.425A>G	XP_011536569.1:p.Glu142Gly
XM_011538267.3:c.425A>G	XP_011536569.1:p.Glu142Gly
XM_011538268.1:c.307A>G	XP_011536570.1:p.Arg103Gly
XM_011538268.2:c.307A>G	XP_011536570.1:p.Arg103Gly
XM_011538269.1:c.304A>G	XP_011536571.1:p.Arg102Gly
XM_011538269.2:c.304A>G	XP_011536571.1:p.Arg102Gly
XM_024448961.1:c.580A>G	XP_024304729.1:p.Arg194Gly