Canonical Allele Identifier: CA386639824

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.110006659C>A (hg19) ; chr12:g.109568854C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568854C>A , CM000674.2:g.109568854C>A	GRCh38
NC_000012.11:g.110006659C>A , CM000674.1:g.110006659C>A	GRCh37
NC_000012.10:g.108491042C>A	NCBI36
NG_007096.1:g.9644G>T
NG_007702.1:g.160C>A , LRG_156:g.160C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.206G>T MANE Select	ENSP00000445920.1:p.Ser69Ile
ENST00000420167.6:c.*35G>T	ENSP00000416136.2:n.*35G>T
ENST00000503497.7:c.206G>T	ENSP00000474881.1:p.Ser69Ile
ENST00000536760.1:n.209G>T
ENST00000537236.2:c.206G>T	ENSP00000483818.1:p.Ser69Ile
ENST00000537496.5:c.206G>T	ENSP00000444793.1:p.Ser69Ile
ENST00000540016.5:c.135-3678G>T	ENSP00000474582.1:n.135-3678G>T
ENST00000541763.6:c.206G>T	ENSP00000474981.1:p.Ser69Ile
ENST00000542390.5:n.233G>T
ENST00000544051.5:c.144G>T	ENSP00000438079.1:p.Ter48Tyr
ENST00000545712.6:c.206G>T	ENSP00000445920.1:p.Ser69Ile
NM_052845.3:c.206G>T	NP_443077.1:p.Ser69Ile
NR_038118.1:n.279G>T
XM_024448961.1:c.206G>T	XP_024304729.1:p.Ser69Ile
NM_052845.4:c.206G>T MANE Select	NP_443077.1:p.Ser69Ile
NR_038118.2:n.230G>T