Canonical Allele Identifier: CA386635496

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557057-C-A
• MyVariant Identifiers: chr12:g.109994862C>A (hg19) ; chr12:g.109557057C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557057C>A , CM000674.2:g.109557057C>A	GRCh38
NC_000012.11:g.109994862C>A , CM000674.1:g.109994862C>A	GRCh37
NC_000012.10:g.108479245C>A	NCBI36
NG_007096.1:g.21441G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.724G>T MANE Select	ENSP00000445920.1:p.Asp242Tyr
ENST00000537496.5:c.*289G>T	ENSP00000444793.1:n.*289G>T
ENST00000540016.5:c.568G>T	ENSP00000474582.1:p.Asp190Tyr
ENST00000541763.6:c.949G>T	ENSP00000474981.1:n.949G>T
ENST00000544051.5:c.*605G>T	ENSP00000438079.1:n.*605G>T
ENST00000545712.6:c.724G>T	ENSP00000445920.1:p.Asp242Tyr
NM_052845.3:c.724G>T	NP_443077.1:p.Asp242Tyr
NR_038118.1:n.884G>T
XM_011538266.1:c.*71G>T	XP_011536568.1:n.*71G>T
XM_011538267.1:c.*71G>T	XP_011536569.1:n.*71G>T
XM_011538268.1:c.451G>T	XP_011536570.1:p.Asp151Tyr
XM_011538269.1:c.448G>T	XP_011536571.1:p.Asp150Tyr
XM_011538267.3:c.*71G>T	XP_011536569.1:n.*71G>T
XM_011538268.2:c.451G>T	XP_011536570.1:p.Asp151Tyr
XM_011538269.2:c.448G>T	XP_011536571.1:p.Asp150Tyr
NM_052845.4:c.724G>T MANE Select	NP_443077.1:p.Asp242Tyr
NR_038118.2:n.835G>T