Canonical Allele Identifier: CA358791
Gene: MMAA HGNC NCBI

Linked Data

ClinVar Variation Id: 225189
ClinVar RCV Id: RCV000210840
dbSNP Id: rs869320657
MyVariant Identifiers: chr4:g.146576354T>G (hg19) chr4:g.145655202T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145655202T>G , CM000666.2:g.145655202T>G GRCh38
NC_000004.11:g.146576354T>G , CM000666.1:g.146576354T>G GRCh37
NC_000004.10:g.146795804T>G NCBI36
NG_007536.1:g.40905T>G
NG_007536.2:g.61161T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000541599.5:c.1025T>G ENSP00000442284.3:p.Met342Arg
ENST00000647947.1:c.*809T>G ENSP00000496781.1:n.*809T>G
ENST00000648388.1:c.1025T>G ENSP00000497046.1:p.Met342Arg
ENST00000649156.2:c.1025T>G MANE Select ENSP00000497008.1:p.Met342Arg
ENST00000649173.1:c.959T>G ENSP00000497871.1:p.Met320Arg
ENST00000649704.1:c.1025T>G ENSP00000497680.1:p.Met342Arg
ENST00000679563.1:c.1025T>G ENSP00000506503.1:p.Met342Arg
ENST00000679930.1:c.*544T>G ENSP00000506293.1:n.*544T>G
ENST00000281317.9:c.1025T>G ENSP00000281317.5:p.Met342Arg
ENST00000503730.1:n.435T>G
ENST00000511969.4:c.*156T>G ENSP00000427422.1:n.*156T>G
ENST00000541599.4:c.1025T>G ENSP00000442284.2:p.Met342Arg
NM_172250.2:c.1025T>G NP_758454.1:p.Met342Arg
XM_011531684.1:c.1025T>G XP_011529986.1:p.Met342Arg
XM_011531685.1:c.1025T>G XP_011529987.1:p.Met342Arg
XM_011531686.1:c.530T>G XP_011529988.1:p.Met177Arg
NM_172250.3:c.1025T>G MANE Select NP_758454.1:p.Met342Arg
XM_011531684.3:c.1025T>G XP_011529986.1:p.Met342Arg
XM_011531685.2:c.1025T>G XP_011529987.1:p.Met342Arg
XM_011531686.2:c.530T>G XP_011529988.1:p.Met177Arg
NM_001375644.1:c.1025T>G NP_001362573.1:p.Met342Arg
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