Canonical Allele Identifier: CA481712511

Gene: MMAB

Linked Data

• gnomAD v4: 12-109568862-C-A
• MyVariant Identifiers: chr12:g.110006667C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568862C>A , CM000674.2:g.109568862C>A	GRCh38
NC_000012.11:g.110006667C>A , CM000674.1:g.110006667C>A	GRCh37
NC_000012.10:g.108491050C>A	NCBI36
NG_007096.1:g.9636G>T
NG_007702.1:g.168C>A , LRG_156:g.168C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.198G>T MANE Select	ENSP00000445920.1:p.Gly66=
ENST00000420167.6:c.*27G>T	ENSP00000416136.2:n.*27G>T
ENST00000503497.7:c.198G>T	ENSP00000474881.1:p.Gly66=
ENST00000536760.1:n.201G>T
ENST00000537236.2:c.198G>T	ENSP00000483818.1:p.Gly66=
ENST00000537496.5:c.198G>T	ENSP00000444793.1:p.Gly66=
ENST00000540016.5:c.135-3686G>T	ENSP00000474582.1:n.135-3686G>T
ENST00000541763.6:c.198G>T	ENSP00000474981.1:p.Gly66=
ENST00000542390.5:n.225G>T
ENST00000544051.5:c.136G>T	ENSP00000438079.1:p.Val46Phe
ENST00000545712.6:c.198G>T	ENSP00000445920.1:p.Gly66=
NM_052845.3:c.198G>T	NP_443077.1:p.Gly66=
NR_038118.1:n.271G>T
XM_024448961.1:c.198G>T	XP_024304729.1:p.Gly66=
NM_052845.4:c.198G>T MANE Select	NP_443077.1:p.Gly66=
NR_038118.2:n.222G>T