Canonical Allele Identifier: CA481710164

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994932G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557127G>A , CM000674.2:g.109557127G>A	GRCh38
NC_000012.11:g.109994932G>A , CM000674.1:g.109994932G>A	GRCh37
NC_000012.10:g.108479315G>A	NCBI36
NG_007096.1:g.21371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.654C>T MANE Select	ENSP00000445920.1:p.Asp218=
ENST00000537496.5:c.*219C>T	ENSP00000444793.1:n.*219C>T
ENST00000540016.5:c.498C>T	ENSP00000474582.1:p.Asp166=
ENST00000541763.6:c.879C>T	ENSP00000474981.1:n.879C>T
ENST00000544051.5:c.*535C>T	ENSP00000438079.1:n.*535C>T
ENST00000545712.6:c.654C>T	ENSP00000445920.1:p.Asp218=
NM_052845.3:c.654C>T	NP_443077.1:p.Asp218=
NR_038118.1:n.814C>T
XM_011538266.1:c.*1C>T	XP_011536568.1:n.*1C>T
XM_011538267.1:c.*1C>T	XP_011536569.1:n.*1C>T
XM_011538268.1:c.381C>T	XP_011536570.1:p.Asp127=
XM_011538269.1:c.378C>T	XP_011536571.1:p.Asp126=
XM_011538267.3:c.*1C>T	XP_011536569.1:n.*1C>T
XM_011538268.2:c.381C>T	XP_011536570.1:p.Asp127=
XM_011538269.2:c.378C>T	XP_011536571.1:p.Asp126=
NM_052845.4:c.654C>T MANE Select	NP_443077.1:p.Asp218=
NR_038118.2:n.765C>T