Canonical Allele Identifier: CA481712469

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.110006601A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568796A>C , CM000674.2:g.109568796A>C	GRCh38
NC_000012.11:g.110006601A>C , CM000674.1:g.110006601A>C	GRCh37
NC_000012.10:g.108490984A>C	NCBI36
NG_007096.1:g.9702T>G
NG_007702.1:g.102A>C , LRG_156:g.102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.264T>G MANE Select	ENSP00000445920.1:p.Thr88=
ENST00000420167.6:c.*93T>G	ENSP00000416136.2:n.*93T>G
ENST00000503497.7:c.264T>G	ENSP00000474881.1:p.Thr88=
ENST00000536760.1:n.267T>G
ENST00000537236.2:c.264T>G	ENSP00000483818.1:p.Thr88=
ENST00000537496.5:c.264T>G	ENSP00000444793.1:p.Thr88=
ENST00000540016.5:c.135-3620T>G	ENSP00000474582.1:n.135-3620T>G
ENST00000541763.6:c.264T>G	ENSP00000474981.1:p.Thr88=
ENST00000542390.5:n.291T>G
ENST00000544051.5:c.*58T>G	ENSP00000438079.1:n.*58T>G
ENST00000545712.6:c.264T>G	ENSP00000445920.1:p.Thr88=
NM_052845.3:c.264T>G	NP_443077.1:p.Thr88=
NR_038118.1:n.337T>G
XM_024448961.1:c.264T>G	XP_024304729.1:p.Thr88=
NM_052845.4:c.264T>G MANE Select	NP_443077.1:p.Thr88=
NR_038118.2:n.288T>G