Canonical Allele Identifier: CA481709955

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994839T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557034T>A , CM000674.2:g.109557034T>A	GRCh38
NC_000012.11:g.109994839T>A , CM000674.1:g.109994839T>A	GRCh37
NC_000012.10:g.108479222T>A	NCBI36
NG_007096.1:g.21464A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.747A>T MANE Select	ENSP00000445920.1:p.Gly249=
ENST00000537496.5:c.*312A>T	ENSP00000444793.1:n.*312A>T
ENST00000540016.5:c.591A>T	ENSP00000474582.1:p.Gly197=
ENST00000541763.6:c.972A>T	ENSP00000474981.1:n.972A>T
ENST00000544051.5:c.*628A>T	ENSP00000438079.1:n.*628A>T
ENST00000545712.6:c.747A>T	ENSP00000445920.1:p.Gly249=
NM_052845.3:c.747A>T	NP_443077.1:p.Gly249=
NR_038118.1:n.907A>T
XM_011538266.1:c.*94A>T	XP_011536568.1:n.*94A>T
XM_011538267.1:c.*94A>T	XP_011536569.1:n.*94A>T
XM_011538268.1:c.474A>T	XP_011536570.1:p.Gly158=
XM_011538269.1:c.471A>T	XP_011536571.1:p.Gly157=
XM_011538267.3:c.*94A>T	XP_011536569.1:n.*94A>T
XM_011538268.2:c.474A>T	XP_011536570.1:p.Gly158=
XM_011538269.2:c.471A>T	XP_011536571.1:p.Gly157=
NM_052845.4:c.747A>T MANE Select	NP_443077.1:p.Gly249=
NR_038118.2:n.858A>T