Canonical Allele Identifier: CA347910
Gene: MMAA HGNC NCBI

Linked Data

ClinVar Variation Id: 218971
ClinVar RCV Id: RCV000203404
dbSNP Id: rs864309726
COSMIC: COSM327472

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145639405T>C , CM000666.2:g.145639405T>C GRCh38
NC_000004.11:g.146560557T>C , CM000666.1:g.146560557T>C GRCh37
NC_000004.10:g.146780007T>C NCBI36
NG_007536.1:g.25108T>C
NG_007536.2:g.45364T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000541599.5:c.266T>C ENSP00000442284.3:p.Leu89Pro
ENST00000647947.1:c.266T>C ENSP00000496781.1:p.Leu89Pro
ENST00000648388.1:c.266T>C ENSP00000497046.1:p.Leu89Pro
ENST00000649156.2:c.266T>C MANE Select ENSP00000497008.1:p.Leu89Pro
ENST00000649173.1:c.266T>C ENSP00000497871.1:p.Leu89Pro
ENST00000649704.1:c.266T>C ENSP00000497680.1:p.Leu89Pro
ENST00000679563.1:c.266T>C ENSP00000506503.1:p.Leu89Pro
ENST00000679930.1:c.266T>C ENSP00000506293.1:p.Leu89Pro
ENST00000281317.9:c.266T>C ENSP00000281317.5:p.Leu89Pro
ENST00000506919.1:n.754T>C
ENST00000511969.4:c.266T>C ENSP00000427422.1:p.Leu89Pro
ENST00000541599.4:c.266T>C ENSP00000442284.2:p.Leu89Pro
NM_172250.2:c.266T>C NP_758454.1:p.Leu89Pro
XM_011531684.1:c.266T>C XP_011529986.1:p.Leu89Pro
XM_011531685.1:c.266T>C XP_011529987.1:p.Leu89Pro
NM_172250.3:c.266T>C MANE Select NP_758454.1:p.Leu89Pro
XM_011531684.3:c.266T>C XP_011529986.1:p.Leu89Pro
XM_011531685.2:c.266T>C XP_011529987.1:p.Leu89Pro
XM_011531686.2:c.-518T>C XP_011529988.1:n.-518T>C
NM_001375644.1:c.266T>C NP_001362573.1:p.Leu89Pro