Canonical Allele Identifier: CA481711181

Gene: MMAB

Linked Data

• ClinVar Variation Id: 2017200
• ClinVar RCV Id: RCV002856670
• gnomAD v4: 12-109561069-G-A
• MyVariant Identifiers: chr12:g.109998874G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561069G>A , CM000674.2:g.109561069G>A	GRCh38
NC_000012.11:g.109998874G>A , CM000674.1:g.109998874G>A	GRCh37
NC_000012.10:g.108483257G>A	NCBI36
NG_007096.1:g.17429C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000545712.7:c.555C>T MANE Select	ENSP00000445920.1:p.Cys185=
ENST00000537496.5:c.*120C>T	ENSP00000444793.1:n.*120C>T
ENST00000540016.5:c.399C>T	ENSP00000474582.1:p.Cys133=
ENST00000541763.6:c.780C>T	ENSP00000474981.1:n.780C>T
ENST00000544051.5:c.*436C>T	ENSP00000438079.1:n.*436C>T
ENST00000545712.6:c.555C>T	ENSP00000445920.1:p.Cys185=
NM_052845.3:c.555C>T	NP_443077.1:p.Cys185=
NR_038118.1:n.715C>T
XM_011538266.1:c.400C>T	XP_011536568.1:p.Pro134Ser
XM_011538267.1:c.400C>T	XP_011536569.1:p.Pro134Ser
XM_011538268.1:c.282C>T	XP_011536570.1:p.Cys94=
XM_011538269.1:c.279C>T	XP_011536571.1:p.Cys93=
XM_011538267.3:c.400C>T	XP_011536569.1:p.Pro134Ser
XM_011538268.2:c.282C>T	XP_011536570.1:p.Cys94=
XM_011538269.2:c.279C>T	XP_011536571.1:p.Cys93=
XM_024448961.1:c.555C>T	XP_024304729.1:p.Cys185=
NM_052845.4:c.555C>T MANE Select	NP_443077.1:p.Cys185=
NR_038118.2:n.666C>T