Canonical Allele Identifier: CA386635424

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994838G>C (hg19) ; chr12:g.109557033G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557033G>C , CM000674.2:g.109557033G>C	GRCh38
NC_000012.11:g.109994838G>C , CM000674.1:g.109994838G>C	GRCh37
NC_000012.10:g.108479221G>C	NCBI36
NG_007096.1:g.21465C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.748C>G MANE Select	ENSP00000445920.1:p.Leu250Val
ENST00000537496.5:c.*313C>G	ENSP00000444793.1:n.*313C>G
ENST00000540016.5:c.592C>G	ENSP00000474582.1:p.Leu198Val
ENST00000541763.6:c.973C>G	ENSP00000474981.1:n.973C>G
ENST00000544051.5:c.*629C>G	ENSP00000438079.1:n.*629C>G
ENST00000545712.6:c.748C>G	ENSP00000445920.1:p.Leu250Val
NM_052845.3:c.748C>G	NP_443077.1:p.Leu250Val
NR_038118.1:n.908C>G
XM_011538266.1:c.*95C>G	XP_011536568.1:n.*95C>G
XM_011538267.1:c.*95C>G	XP_011536569.1:n.*95C>G
XM_011538268.1:c.475C>G	XP_011536570.1:p.Leu159Val
XM_011538269.1:c.472C>G	XP_011536571.1:p.Leu158Val
XM_011538267.3:c.*95C>G	XP_011536569.1:n.*95C>G
XM_011538268.2:c.475C>G	XP_011536570.1:p.Leu159Val
XM_011538269.2:c.472C>G	XP_011536571.1:p.Leu158Val
NM_052845.4:c.748C>G MANE Select	NP_443077.1:p.Leu250Val
NR_038118.2:n.859C>G