Canonical Allele Identifier: CA312705

Gene: MMAA

Linked Data

• ClinVar Variation Id: 3160
• ClinVar RCV Id: RCV000003310 ; RCV000186012 ; RCV000587855 ; RCV003128386 ; RCV003421899
• dbSNP Id: rs104893851
• ExAC: 4:146560724 C / T
• gnomAD v2: 4-146560724-C-T
• gnomAD v3: 4-145639572-C-T
• gnomAD v4: 4-145639572-C-T
• COSMIC: COSM3428207
• MyVariant Identifiers: chr4:g.146560724C>T (hg19) ; chr4:g.145639572C>T (hg38)
• PubMed: PMID:15308131 ; PMID:15523652 ; PMID:15781192 ; PMID:20301409 ; PMID:24095221 ; PMID:26370686 ; PMID:27591164

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639572C>T , CM000666.2:g.145639572C>T	GRCh38
NC_000004.11:g.146560724C>T , CM000666.1:g.146560724C>T	GRCh37
NC_000004.10:g.146780174C>T	NCBI36
NG_007536.1:g.25275C>T
NG_007536.2:g.45531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.433C>T	ENSP00000442284.3:p.Arg145Ter
ENST00000647947.1:c.433C>T	ENSP00000496781.1:p.Arg145Ter
ENST00000648388.1:c.433C>T	ENSP00000497046.1:p.Arg145Ter
ENST00000649156.2:c.433C>T MANE Select	ENSP00000497008.1:p.Arg145Ter
ENST00000649173.1:c.433C>T	ENSP00000497871.1:p.Arg145Ter
ENST00000649704.1:c.433C>T	ENSP00000497680.1:p.Arg145Ter
ENST00000679563.1:c.433C>T	ENSP00000506503.1:p.Arg145Ter
ENST00000679930.1:c.433C>T	ENSP00000506293.1:p.Arg145Ter
ENST00000281317.9:c.433C>T	ENSP00000281317.5:p.Arg145Ter
ENST00000506919.1:n.921C>T
ENST00000511969.4:c.433C>T	ENSP00000427422.1:p.Arg145Ter
ENST00000541599.4:c.433C>T	ENSP00000442284.2:p.Arg145Ter
NM_172250.2:c.433C>T	NP_758454.1:p.Arg145Ter
XM_011531684.1:c.433C>T	XP_011529986.1:p.Arg145Ter
XM_011531685.1:c.433C>T	XP_011529987.1:p.Arg145Ter
NM_172250.3:c.433C>T MANE Select	NP_758454.1:p.Arg145Ter
XM_011531684.3:c.433C>T	XP_011529986.1:p.Arg145Ter
XM_011531685.2:c.433C>T	XP_011529987.1:p.Arg145Ter
XM_011531686.2:c.-351C>T	XP_011529988.1:n.-351C>T
NM_001375644.1:c.433C>T	NP_001362573.1:p.Arg145Ter