Canonical Allele Identifier: CA386635476

Gene: MMAB

Linked Data

• dbSNP Id: rs771993425
• gnomAD v2: 12-109994850-C-T
• gnomAD v4: 12-109557045-C-T
• MyVariant Identifiers: chr12:g.109994850C>T (hg19) ; chr12:g.109557045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557045C>T , CM000674.2:g.109557045C>T	GRCh38
NC_000012.11:g.109994850C>T , CM000674.1:g.109994850C>T	GRCh37
NC_000012.10:g.108479233C>T	NCBI36
NG_007096.1:g.21453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.736G>A MANE Select	ENSP00000445920.1:p.Glu246Lys
ENST00000537496.5:c.*301G>A	ENSP00000444793.1:n.*301G>A
ENST00000540016.5:c.580G>A	ENSP00000474582.1:p.Glu194Lys
ENST00000541763.6:c.961G>A	ENSP00000474981.1:n.961G>A
ENST00000544051.5:c.*617G>A	ENSP00000438079.1:n.*617G>A
ENST00000545712.6:c.736G>A	ENSP00000445920.1:p.Glu246Lys
NM_052845.3:c.736G>A	NP_443077.1:p.Glu246Lys
NR_038118.1:n.896G>A
XM_011538266.1:c.*83G>A	XP_011536568.1:n.*83G>A
XM_011538267.1:c.*83G>A	XP_011536569.1:n.*83G>A
XM_011538268.1:c.463G>A	XP_011536570.1:p.Glu155Lys
XM_011538269.1:c.460G>A	XP_011536571.1:p.Glu154Lys
XM_011538267.3:c.*83G>A	XP_011536569.1:n.*83G>A
XM_011538268.2:c.463G>A	XP_011536570.1:p.Glu155Lys
XM_011538269.2:c.460G>A	XP_011536571.1:p.Glu154Lys
NM_052845.4:c.736G>A MANE Select	NP_443077.1:p.Glu246Lys
NR_038118.2:n.847G>A