Canonical Allele Identifier: CA386635530

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994876A>C (hg19) ; chr12:g.109557071A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557071A>C , CM000674.2:g.109557071A>C	GRCh38
NC_000012.11:g.109994876A>C , CM000674.1:g.109994876A>C	GRCh37
NC_000012.10:g.108479259A>C	NCBI36
NG_007096.1:g.21427T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.710T>G MANE Select	ENSP00000445920.1:p.Ile237Arg
ENST00000537496.5:c.*275T>G	ENSP00000444793.1:n.*275T>G
ENST00000540016.5:c.554T>G	ENSP00000474582.1:p.Ile185Arg
ENST00000541763.6:c.935T>G	ENSP00000474981.1:n.935T>G
ENST00000544051.5:c.*591T>G	ENSP00000438079.1:n.*591T>G
ENST00000545712.6:c.710T>G	ENSP00000445920.1:p.Ile237Arg
NM_052845.3:c.710T>G	NP_443077.1:p.Ile237Arg
NR_038118.1:n.870T>G
XM_011538266.1:c.*57T>G	XP_011536568.1:n.*57T>G
XM_011538267.1:c.*57T>G	XP_011536569.1:n.*57T>G
XM_011538268.1:c.437T>G	XP_011536570.1:p.Ile146Arg
XM_011538269.1:c.434T>G	XP_011536571.1:p.Ile145Arg
XM_011538267.3:c.*57T>G	XP_011536569.1:n.*57T>G
XM_011538268.2:c.437T>G	XP_011536570.1:p.Ile146Arg
XM_011538269.2:c.434T>G	XP_011536571.1:p.Ile145Arg
NM_052845.4:c.710T>G MANE Select	NP_443077.1:p.Ile237Arg
NR_038118.2:n.821T>G