Canonical Allele Identifier: CA386635490

Gene: MMAB

Linked Data

• gnomAD v4: 12-109557054-G-T
• MyVariant Identifiers: chr12:g.109994859G>T (hg19) ; chr12:g.109557054G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557054G>T , CM000674.2:g.109557054G>T	GRCh38
NC_000012.11:g.109994859G>T , CM000674.1:g.109994859G>T	GRCh37
NC_000012.10:g.108479242G>T	NCBI36
NG_007096.1:g.21444C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.727C>A MANE Select	ENSP00000445920.1:p.Pro243Thr
ENST00000537496.5:c.*292C>A	ENSP00000444793.1:n.*292C>A
ENST00000540016.5:c.571C>A	ENSP00000474582.1:p.Pro191Thr
ENST00000541763.6:c.952C>A	ENSP00000474981.1:n.952C>A
ENST00000544051.5:c.*608C>A	ENSP00000438079.1:n.*608C>A
ENST00000545712.6:c.727C>A	ENSP00000445920.1:p.Pro243Thr
NM_052845.3:c.727C>A	NP_443077.1:p.Pro243Thr
NR_038118.1:n.887C>A
XM_011538266.1:c.*74C>A	XP_011536568.1:n.*74C>A
XM_011538267.1:c.*74C>A	XP_011536569.1:n.*74C>A
XM_011538268.1:c.454C>A	XP_011536570.1:p.Pro152Thr
XM_011538269.1:c.451C>A	XP_011536571.1:p.Pro151Thr
XM_011538267.3:c.*74C>A	XP_011536569.1:n.*74C>A
XM_011538268.2:c.454C>A	XP_011536570.1:p.Pro152Thr
XM_011538269.2:c.451C>A	XP_011536571.1:p.Pro151Thr
NM_052845.4:c.727C>A MANE Select	NP_443077.1:p.Pro243Thr
NR_038118.2:n.838C>A