Canonical Allele Identifier: CA386635440

Gene: MMAB

Linked Data

• dbSNP Id: rs1416044039
• gnomAD v2: 12-109994841-C-T
• gnomAD v4: 12-109557036-C-T
• MyVariant Identifiers: chr12:g.109994841C>T (hg19) ; chr12:g.109557036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557036C>T , CM000674.2:g.109557036C>T	GRCh38
NC_000012.11:g.109994841C>T , CM000674.1:g.109994841C>T	GRCh37
NC_000012.10:g.108479224C>T	NCBI36
NG_007096.1:g.21462G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.745G>A MANE Select	ENSP00000445920.1:p.Gly249Arg
ENST00000537496.5:c.*310G>A	ENSP00000444793.1:n.*310G>A
ENST00000540016.5:c.589G>A	ENSP00000474582.1:p.Gly197Arg
ENST00000541763.6:c.970G>A	ENSP00000474981.1:n.970G>A
ENST00000544051.5:c.*626G>A	ENSP00000438079.1:n.*626G>A
ENST00000545712.6:c.745G>A	ENSP00000445920.1:p.Gly249Arg
NM_052845.3:c.745G>A	NP_443077.1:p.Gly249Arg
NR_038118.1:n.905G>A
XM_011538266.1:c.*92G>A	XP_011536568.1:n.*92G>A
XM_011538267.1:c.*92G>A	XP_011536569.1:n.*92G>A
XM_011538268.1:c.472G>A	XP_011536570.1:p.Gly158Arg
XM_011538269.1:c.469G>A	XP_011536571.1:p.Gly157Arg
XM_011538267.3:c.*92G>A	XP_011536569.1:n.*92G>A
XM_011538268.2:c.472G>A	XP_011536570.1:p.Gly158Arg
XM_011538269.2:c.469G>A	XP_011536571.1:p.Gly157Arg
NM_052845.4:c.745G>A MANE Select	NP_443077.1:p.Gly249Arg
NR_038118.2:n.856G>A