Canonical Allele Identifier: CA386635513

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994868T>C (hg19) ; chr12:g.109557063T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557063T>C , CM000674.2:g.109557063T>C	GRCh38
NC_000012.11:g.109994868T>C , CM000674.1:g.109994868T>C	GRCh37
NC_000012.10:g.108479251T>C	NCBI36
NG_007096.1:g.21435A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.718A>G MANE Select	ENSP00000445920.1:p.Lys240Glu
ENST00000537496.5:c.*283A>G	ENSP00000444793.1:n.*283A>G
ENST00000540016.5:c.562A>G	ENSP00000474582.1:p.Lys188Glu
ENST00000541763.6:c.943A>G	ENSP00000474981.1:n.943A>G
ENST00000544051.5:c.*599A>G	ENSP00000438079.1:n.*599A>G
ENST00000545712.6:c.718A>G	ENSP00000445920.1:p.Lys240Glu
NM_052845.3:c.718A>G	NP_443077.1:p.Lys240Glu
NR_038118.1:n.878A>G
XM_011538266.1:c.*65A>G	XP_011536568.1:n.*65A>G
XM_011538267.1:c.*65A>G	XP_011536569.1:n.*65A>G
XM_011538268.1:c.445A>G	XP_011536570.1:p.Lys149Glu
XM_011538269.1:c.442A>G	XP_011536571.1:p.Lys148Glu
XM_011538267.3:c.*65A>G	XP_011536569.1:n.*65A>G
XM_011538268.2:c.445A>G	XP_011536570.1:p.Lys149Glu
XM_011538269.2:c.442A>G	XP_011536571.1:p.Lys148Glu
NM_052845.4:c.718A>G MANE Select	NP_443077.1:p.Lys240Glu
NR_038118.2:n.829A>G