Canonical Allele Identifier: CA3095337

Gene: MMAA

Linked Data

• ClinVar Variation Id: 648919
• ClinVar RCV Id: RCV000803749 ; RCV003353035
• dbSNP Id: rs140031911
• ExAC: 4:146576318 G / A
• gnomAD v2: 4-146576318-G-A
• gnomAD v3: 4-145655166-G-A
• gnomAD v4: 4-145655166-G-A
• MyVariant Identifiers: chr4:g.146576318G>A (hg19) ; chr4:g.145655166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655166G>A , CM000666.2:g.145655166G>A	GRCh38
NC_000004.11:g.146576318G>A , CM000666.1:g.146576318G>A	GRCh37
NC_000004.10:g.146795768G>A	NCBI36
NG_007536.1:g.40869G>A
NG_007536.2:g.61125G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000541599.5:c.989G>A	ENSP00000442284.3:p.Arg330Gln
ENST00000647947.1:c.*773G>A	ENSP00000496781.1:n.*773G>A
ENST00000648388.1:c.989G>A	ENSP00000497046.1:p.Arg330Gln
ENST00000649156.2:c.989G>A MANE Select	ENSP00000497008.1:p.Arg330Gln
ENST00000649173.1:c.923G>A	ENSP00000497871.1:p.Arg308Gln
ENST00000649704.1:c.989G>A	ENSP00000497680.1:p.Arg330Gln
ENST00000679563.1:c.989G>A	ENSP00000506503.1:p.Arg330Gln
ENST00000679930.1:c.*508G>A	ENSP00000506293.1:n.*508G>A
ENST00000281317.9:c.989G>A	ENSP00000281317.5:p.Arg330Gln
ENST00000503730.1:n.399G>A
ENST00000511969.4:c.*120G>A	ENSP00000427422.1:n.*120G>A
ENST00000541599.4:c.989G>A	ENSP00000442284.2:p.Arg330Gln
NM_172250.2:c.989G>A	NP_758454.1:p.Arg330Gln
XM_011531684.1:c.989G>A	XP_011529986.1:p.Arg330Gln
XM_011531685.1:c.989G>A	XP_011529987.1:p.Arg330Gln
XM_011531686.1:c.494G>A	XP_011529988.1:p.Arg165Gln
NM_172250.3:c.989G>A MANE Select	NP_758454.1:p.Arg330Gln
XM_011531684.3:c.989G>A	XP_011529986.1:p.Arg330Gln
XM_011531685.2:c.989G>A	XP_011529987.1:p.Arg330Gln
XM_011531686.2:c.494G>A	XP_011529988.1:p.Arg165Gln
NM_001375644.1:c.989G>A	NP_001362573.1:p.Arg330Gln