Canonical Allele Identifier: CA386639513

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.110006602G>A (hg19) ; chr12:g.109568797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568797G>A , CM000674.2:g.109568797G>A	GRCh38
NC_000012.11:g.110006602G>A , CM000674.1:g.110006602G>A	GRCh37
NC_000012.10:g.108490985G>A	NCBI36
NG_007096.1:g.9701C>T
NG_007702.1:g.103G>A , LRG_156:g.103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.263C>T MANE Select	ENSP00000445920.1:p.Thr88Ile
ENST00000420167.6:c.*92C>T	ENSP00000416136.2:n.*92C>T
ENST00000503497.7:c.263C>T	ENSP00000474881.1:p.Thr88Ile
ENST00000536760.1:n.266C>T
ENST00000537236.2:c.263C>T	ENSP00000483818.1:p.Thr88Ile
ENST00000537496.5:c.263C>T	ENSP00000444793.1:p.Thr88Ile
ENST00000540016.5:c.135-3621C>T	ENSP00000474582.1:n.135-3621C>T
ENST00000541763.6:c.263C>T	ENSP00000474981.1:p.Thr88Ile
ENST00000542390.5:n.290C>T
ENST00000544051.5:c.*57C>T	ENSP00000438079.1:n.*57C>T
ENST00000545712.6:c.263C>T	ENSP00000445920.1:p.Thr88Ile
NM_052845.3:c.263C>T	NP_443077.1:p.Thr88Ile
NR_038118.1:n.336C>T
XM_024448961.1:c.263C>T	XP_024304729.1:p.Thr88Ile
NM_052845.4:c.263C>T MANE Select	NP_443077.1:p.Thr88Ile
NR_038118.2:n.287C>T