Canonical Allele Identifier: CA358352932
Gene: MMAA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145639474A>T , CM000666.2:g.145639474A>T GRCh38
NC_000004.11:g.146560626A>T , CM000666.1:g.146560626A>T GRCh37
NC_000004.10:g.146780076A>T NCBI36
NG_007536.1:g.25177A>T
NG_007536.2:g.45433A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541599.5:c.335A>T ENSP00000442284.3:p.His112Leu
ENST00000647947.1:c.335A>T ENSP00000496781.1:p.His112Leu
ENST00000648388.1:c.335A>T ENSP00000497046.1:p.His112Leu
ENST00000649156.2:c.335A>T MANE Select ENSP00000497008.1:p.His112Leu
ENST00000649173.1:c.335A>T ENSP00000497871.1:p.His112Leu
ENST00000649704.1:c.335A>T ENSP00000497680.1:p.His112Leu
ENST00000679563.1:c.335A>T ENSP00000506503.1:p.His112Leu
ENST00000679930.1:c.335A>T ENSP00000506293.1:p.His112Leu
ENST00000281317.9:c.335A>T ENSP00000281317.5:p.His112Leu
ENST00000506919.1:n.823A>T
ENST00000511969.4:c.335A>T ENSP00000427422.1:p.His112Leu
ENST00000541599.4:c.335A>T ENSP00000442284.2:p.His112Leu
NM_172250.2:c.335A>T NP_758454.1:p.His112Leu
XM_011531684.1:c.335A>T XP_011529986.1:p.His112Leu
XM_011531685.1:c.335A>T XP_011529987.1:p.His112Leu
NM_172250.3:c.335A>T MANE Select NP_758454.1:p.His112Leu
XM_011531684.3:c.335A>T XP_011529986.1:p.His112Leu
XM_011531685.2:c.335A>T XP_011529987.1:p.His112Leu
XM_011531686.2:c.-449A>T XP_011529988.1:n.-449A>T
NM_001375644.1:c.335A>T NP_001362573.1:p.His112Leu