Canonical Allele Identifier: CA386635482

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557048-C-T
• MyVariant Identifiers: chr12:g.109994853C>T (hg19) ; chr12:g.109557048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557048C>T , CM000674.2:g.109557048C>T	GRCh38
NC_000012.11:g.109994853C>T , CM000674.1:g.109994853C>T	GRCh37
NC_000012.10:g.108479236C>T	NCBI36
NG_007096.1:g.21450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.733G>A MANE Select	ENSP00000445920.1:p.Ala245Thr
ENST00000537496.5:c.*298G>A	ENSP00000444793.1:n.*298G>A
ENST00000540016.5:c.577G>A	ENSP00000474582.1:p.Ala193Thr
ENST00000541763.6:c.958G>A	ENSP00000474981.1:n.958G>A
ENST00000544051.5:c.*614G>A	ENSP00000438079.1:n.*614G>A
ENST00000545712.6:c.733G>A	ENSP00000445920.1:p.Ala245Thr
NM_052845.3:c.733G>A	NP_443077.1:p.Ala245Thr
NR_038118.1:n.893G>A
XM_011538266.1:c.*80G>A	XP_011536568.1:n.*80G>A
XM_011538267.1:c.*80G>A	XP_011536569.1:n.*80G>A
XM_011538268.1:c.460G>A	XP_011536570.1:p.Ala154Thr
XM_011538269.1:c.457G>A	XP_011536571.1:p.Ala153Thr
XM_011538267.3:c.*80G>A	XP_011536569.1:n.*80G>A
XM_011538268.2:c.460G>A	XP_011536570.1:p.Ala154Thr
XM_011538269.2:c.457G>A	XP_011536571.1:p.Ala153Thr
NM_052845.4:c.733G>A MANE Select	NP_443077.1:p.Ala245Thr
NR_038118.2:n.844G>A