Canonical Allele Identifier: CA386635745

Gene: MMAB

Linked Data

• dbSNP Id: rs1884008957
• MyVariant Identifiers: chr12:g.109994928G>T (hg19) ; chr12:g.109557123G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557123G>T , CM000674.2:g.109557123G>T	GRCh38
NC_000012.11:g.109994928G>T , CM000674.1:g.109994928G>T	GRCh37
NC_000012.10:g.108479311G>T	NCBI36
NG_007096.1:g.21375C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.658C>A MANE Select	ENSP00000445920.1:p.Leu220Ile
ENST00000537496.5:c.*223C>A	ENSP00000444793.1:n.*223C>A
ENST00000540016.5:c.502C>A	ENSP00000474582.1:p.Leu168Ile
ENST00000541763.6:c.883C>A	ENSP00000474981.1:n.883C>A
ENST00000544051.5:c.*539C>A	ENSP00000438079.1:n.*539C>A
ENST00000545712.6:c.658C>A	ENSP00000445920.1:p.Leu220Ile
NM_052845.3:c.658C>A	NP_443077.1:p.Leu220Ile
NR_038118.1:n.818C>A
XM_011538266.1:c.*5C>A	XP_011536568.1:n.*5C>A
XM_011538267.1:c.*5C>A	XP_011536569.1:n.*5C>A
XM_011538268.1:c.385C>A	XP_011536570.1:p.Leu129Ile
XM_011538269.1:c.382C>A	XP_011536571.1:p.Leu128Ile
XM_011538267.3:c.*5C>A	XP_011536569.1:n.*5C>A
XM_011538268.2:c.385C>A	XP_011536570.1:p.Leu129Ile
XM_011538269.2:c.382C>A	XP_011536571.1:p.Leu128Ile
NM_052845.4:c.658C>A MANE Select	NP_443077.1:p.Leu220Ile
NR_038118.2:n.769C>A