Canonical Allele Identifier: CA386635584

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994892C>G (hg19) ; chr12:g.109557087C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557087C>G , CM000674.2:g.109557087C>G	GRCh38
NC_000012.11:g.109994892C>G , CM000674.1:g.109994892C>G	GRCh37
NC_000012.10:g.108479275C>G	NCBI36
NG_007096.1:g.21411G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.694G>C MANE Select	ENSP00000445920.1:p.Gly232Arg
ENST00000537496.5:c.*259G>C	ENSP00000444793.1:n.*259G>C
ENST00000540016.5:c.538G>C	ENSP00000474582.1:p.Gly180Arg
ENST00000541763.6:c.919G>C	ENSP00000474981.1:n.919G>C
ENST00000544051.5:c.*575G>C	ENSP00000438079.1:n.*575G>C
ENST00000545712.6:c.694G>C	ENSP00000445920.1:p.Gly232Arg
NM_052845.3:c.694G>C	NP_443077.1:p.Gly232Arg
NR_038118.1:n.854G>C
XM_011538266.1:c.*41G>C	XP_011536568.1:n.*41G>C
XM_011538267.1:c.*41G>C	XP_011536569.1:n.*41G>C
XM_011538268.1:c.421G>C	XP_011536570.1:p.Gly141Arg
XM_011538269.1:c.418G>C	XP_011536571.1:p.Gly140Arg
XM_011538267.3:c.*41G>C	XP_011536569.1:n.*41G>C
XM_011538268.2:c.421G>C	XP_011536570.1:p.Gly141Arg
XM_011538269.2:c.418G>C	XP_011536571.1:p.Gly140Arg
NM_052845.4:c.694G>C MANE Select	NP_443077.1:p.Gly232Arg
NR_038118.2:n.805G>C