Canonical Allele Identifier: CA278522
Gene: MMAA HGNC NCBI

Linked Data

ClinVar Variation Id: 208199
ClinVar RCV Id: RCV000190396
dbSNP Id: rs796064514

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145639509C>T , CM000666.2:g.145639509C>T GRCh38
NC_000004.11:g.146560661C>T , CM000666.1:g.146560661C>T GRCh37
NC_000004.10:g.146780111C>T NCBI36
NG_007536.1:g.25212C>T
NG_007536.2:g.45468C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541599.5:c.370C>T ENSP00000442284.3:p.Gln124Ter
ENST00000647947.1:c.370C>T ENSP00000496781.1:p.Gln124Ter
ENST00000648388.1:c.370C>T ENSP00000497046.1:p.Gln124Ter
ENST00000649156.2:c.370C>T MANE Select ENSP00000497008.1:p.Gln124Ter
ENST00000649173.1:c.370C>T ENSP00000497871.1:p.Gln124Ter
ENST00000649704.1:c.370C>T ENSP00000497680.1:p.Gln124Ter
ENST00000679563.1:c.370C>T ENSP00000506503.1:p.Gln124Ter
ENST00000679930.1:c.370C>T ENSP00000506293.1:p.Gln124Ter
ENST00000281317.9:c.370C>T ENSP00000281317.5:p.Gln124Ter
ENST00000506919.1:n.858C>T
ENST00000511969.4:c.370C>T ENSP00000427422.1:p.Gln124Ter
ENST00000541599.4:c.370C>T ENSP00000442284.2:p.Gln124Ter
NM_172250.2:c.370C>T NP_758454.1:p.Gln124Ter
XM_011531684.1:c.370C>T XP_011529986.1:p.Gln124Ter
XM_011531685.1:c.370C>T XP_011529987.1:p.Gln124Ter
NM_172250.3:c.370C>T MANE Select NP_758454.1:p.Gln124Ter
XM_011531684.3:c.370C>T XP_011529986.1:p.Gln124Ter
XM_011531685.2:c.370C>T XP_011529987.1:p.Gln124Ter
XM_011531686.2:c.-414C>T XP_011529988.1:n.-414C>T
NM_001375644.1:c.370C>T NP_001362573.1:p.Gln124Ter