Canonical Allele Identifier: CA6778841

Gene: MMAB

Linked Data

• ClinVar Variation Id: 800237
• ClinVar RCV Id: RCV000983917
• dbSNP Id: rs545625368
• ExAC: 12:109998907 C / T
• gnomAD v2: 12-109998907-C-T
• gnomAD v3: 12-109561102-C-T
• gnomAD v4: 12-109561102-C-T
• MyVariant Identifiers: chr12:g.109998907C>T (hg19) ; chr12:g.109561102C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561102C>T , CM000674.2:g.109561102C>T	GRCh38
NC_000012.11:g.109998907C>T , CM000674.1:g.109998907C>T	GRCh37
NC_000012.10:g.108483290C>T	NCBI36
NG_007096.1:g.17396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.522G>A MANE Select	ENSP00000445920.1:p.Ser174=
ENST00000537496.5:c.*87G>A	ENSP00000444793.1:n.*87G>A
ENST00000540016.5:c.366G>A	ENSP00000474582.1:p.Ser122=
ENST00000541763.6:c.747G>A	ENSP00000474981.1:n.747G>A
ENST00000544051.5:c.*403G>A	ENSP00000438079.1:n.*403G>A
ENST00000545712.6:c.522G>A	ENSP00000445920.1:p.Ser174=
NM_052845.3:c.522G>A	NP_443077.1:p.Ser174=
NR_038118.1:n.682G>A
XM_011538266.1:c.367G>A	XP_011536568.1:p.Gly123Arg
XM_011538267.1:c.367G>A	XP_011536569.1:p.Gly123Arg
XM_011538268.1:c.249G>A	XP_011536570.1:p.Ser83=
XM_011538269.1:c.246G>A	XP_011536571.1:p.Ser82=
XM_011538267.3:c.367G>A	XP_011536569.1:p.Gly123Arg
XM_011538268.2:c.249G>A	XP_011536570.1:p.Ser83=
XM_011538269.2:c.246G>A	XP_011536571.1:p.Ser82=
XM_024448961.1:c.522G>A	XP_024304729.1:p.Ser174=
NM_052845.4:c.522G>A MANE Select	NP_443077.1:p.Ser174=
NR_038118.2:n.633G>A