Canonical Allele Identifier: CA386639494

Gene: MMAB

Linked Data

• gnomAD v4: 12-109568791-T-A
• MyVariant Identifiers: chr12:g.110006596T>A (hg19) ; chr12:g.109568791T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109568791T>A , CM000674.2:g.109568791T>A	GRCh38
NC_000012.11:g.110006596T>A , CM000674.1:g.110006596T>A	GRCh37
NC_000012.10:g.108490979T>A	NCBI36
NG_007096.1:g.9707A>T
NG_007702.1:g.97T>A , LRG_156:g.97T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.269A>T MANE Select	ENSP00000445920.1:p.Asp90Val
ENST00000420167.6:c.*98A>T	ENSP00000416136.2:n.*98A>T
ENST00000503497.7:c.269A>T	ENSP00000474881.1:p.Asp90Val
ENST00000536760.1:n.272A>T
ENST00000537236.2:c.269A>T	ENSP00000483818.1:p.Asp90Val
ENST00000537496.5:c.269A>T	ENSP00000444793.1:p.Asp90Val
ENST00000540016.5:c.135-3615A>T	ENSP00000474582.1:n.135-3615A>T
ENST00000541763.6:c.269A>T	ENSP00000474981.1:p.Asp90Val
ENST00000542390.5:n.296A>T
ENST00000544051.5:c.*63A>T	ENSP00000438079.1:n.*63A>T
ENST00000545712.6:c.269A>T	ENSP00000445920.1:p.Asp90Val
NM_052845.3:c.269A>T	NP_443077.1:p.Asp90Val
NR_038118.1:n.342A>T
XM_024448961.1:c.269A>T	XP_024304729.1:p.Asp90Val
NM_052845.4:c.269A>T MANE Select	NP_443077.1:p.Asp90Val
NR_038118.2:n.293A>T