Canonical Allele Identifier: CA386639816

Gene: MMAB

Linked Data

• gnomAD v4: 12-109568851-G-T
• MyVariant Identifiers: chr12:g.110006656G>T (hg19) ; chr12:g.109568851G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568851G>T , CM000674.2:g.109568851G>T	GRCh38
NC_000012.11:g.110006656G>T , CM000674.1:g.110006656G>T	GRCh37
NC_000012.10:g.108491039G>T	NCBI36
NG_007096.1:g.9647C>A
NG_007702.1:g.157G>T , LRG_156:g.157G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.209C>A MANE Select	ENSP00000445920.1:p.Thr70Asn
ENST00000420167.6:c.*38C>A	ENSP00000416136.2:n.*38C>A
ENST00000503497.7:c.209C>A	ENSP00000474881.1:p.Thr70Asn
ENST00000536760.1:n.212C>A
ENST00000537236.2:c.209C>A	ENSP00000483818.1:p.Thr70Asn
ENST00000537496.5:c.209C>A	ENSP00000444793.1:p.Thr70Asn
ENST00000540016.5:c.135-3675C>A	ENSP00000474582.1:n.135-3675C>A
ENST00000541763.6:c.209C>A	ENSP00000474981.1:p.Thr70Asn
ENST00000542390.5:n.236C>A
ENST00000544051.5:c.*3C>A	ENSP00000438079.1:n.*3C>A
ENST00000545712.6:c.209C>A	ENSP00000445920.1:p.Thr70Asn
NM_052845.3:c.209C>A	NP_443077.1:p.Thr70Asn
NR_038118.1:n.282C>A
XM_024448961.1:c.209C>A	XP_024304729.1:p.Thr70Asn
NM_052845.4:c.209C>A MANE Select	NP_443077.1:p.Thr70Asn
NR_038118.2:n.233C>A