Canonical Allele Identifier: CA386635472

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994849T>C (hg19) ; chr12:g.109557044T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557044T>C , CM000674.2:g.109557044T>C	GRCh38
NC_000012.11:g.109994849T>C , CM000674.1:g.109994849T>C	GRCh37
NC_000012.10:g.108479232T>C	NCBI36
NG_007096.1:g.21454A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.737A>G MANE Select	ENSP00000445920.1:p.Glu246Gly
ENST00000537496.5:c.*302A>G	ENSP00000444793.1:n.*302A>G
ENST00000540016.5:c.581A>G	ENSP00000474582.1:p.Glu194Gly
ENST00000541763.6:c.962A>G	ENSP00000474981.1:n.962A>G
ENST00000544051.5:c.*618A>G	ENSP00000438079.1:n.*618A>G
ENST00000545712.6:c.737A>G	ENSP00000445920.1:p.Glu246Gly
NM_052845.3:c.737A>G	NP_443077.1:p.Glu246Gly
NR_038118.1:n.897A>G
XM_011538266.1:c.*84A>G	XP_011536568.1:n.*84A>G
XM_011538267.1:c.*84A>G	XP_011536569.1:n.*84A>G
XM_011538268.1:c.464A>G	XP_011536570.1:p.Glu155Gly
XM_011538269.1:c.461A>G	XP_011536571.1:p.Glu154Gly
XM_011538267.3:c.*84A>G	XP_011536569.1:n.*84A>G
XM_011538268.2:c.464A>G	XP_011536570.1:p.Glu155Gly
XM_011538269.2:c.461A>G	XP_011536571.1:p.Glu154Gly
NM_052845.4:c.737A>G MANE Select	NP_443077.1:p.Glu246Gly
NR_038118.2:n.848A>G