Canonical Allele Identifier: CA347905
Gene: MMAA HGNC NCBI

Linked Data

ClinVar Variation Id: 218979
ClinVar RCV Id: RCV000203388
dbSNP Id: rs864309731

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145655253G>A , CM000666.2:g.145655253G>A GRCh38
NC_000004.11:g.146576405G>A , CM000666.1:g.146576405G>A GRCh37
NC_000004.10:g.146795855G>A NCBI36
NG_007536.1:g.40956G>A
NG_007536.2:g.61212G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000541599.5:c.1076G>A ENSP00000442284.3:p.Arg359Gln
ENST00000647947.1:c.*860G>A ENSP00000496781.1:n.*860G>A
ENST00000648388.1:c.1076G>A ENSP00000497046.1:p.Arg359Gln
ENST00000649156.2:c.1076G>A MANE Select ENSP00000497008.1:p.Arg359Gln
ENST00000649173.1:c.1010G>A ENSP00000497871.1:p.Arg337Gln
ENST00000649704.1:c.1076G>A ENSP00000497680.1:p.Arg359Gln
ENST00000679563.1:c.1076G>A ENSP00000506503.1:p.Arg359Gln
ENST00000679930.1:c.*595G>A ENSP00000506293.1:n.*595G>A
ENST00000281317.9:c.1076G>A ENSP00000281317.5:p.Arg359Gln
ENST00000503730.1:n.486G>A
ENST00000511969.4:c.*207G>A ENSP00000427422.1:n.*207G>A
ENST00000541599.4:c.1076G>A ENSP00000442284.2:p.Arg359Gln
NM_172250.2:c.1076G>A NP_758454.1:p.Arg359Gln
XM_011531684.1:c.1076G>A XP_011529986.1:p.Arg359Gln
XM_011531685.1:c.1076G>A XP_011529987.1:p.Arg359Gln
XM_011531686.1:c.581G>A XP_011529988.1:p.Arg194Gln
NM_172250.3:c.1076G>A MANE Select NP_758454.1:p.Arg359Gln
XM_011531684.3:c.1076G>A XP_011529986.1:p.Arg359Gln
XM_011531685.2:c.1076G>A XP_011529987.1:p.Arg359Gln
XM_011531686.2:c.581G>A XP_011529988.1:p.Arg194Gln
NM_001375644.1:c.1076G>A NP_001362573.1:p.Arg359Gln