Canonical Allele Identifier: CA358355547
Gene: MMAA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145645996A>T , CM000666.2:g.145645996A>T GRCh38
NC_000004.11:g.146567148A>T , CM000666.1:g.146567148A>T GRCh37
NC_000004.10:g.146786598A>T NCBI36
NG_007536.1:g.31699A>T
NG_007536.2:g.51955A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000541599.5:c.573A>T ENSP00000442284.3:p.Leu191Phe
ENST00000647947.1:c.*357A>T ENSP00000496781.1:n.*357A>T
ENST00000648388.1:c.573A>T ENSP00000497046.1:p.Leu191Phe
ENST00000649156.2:c.573A>T MANE Select ENSP00000497008.1:p.Leu191Phe
ENST00000649173.1:c.573A>T ENSP00000497871.1:p.Leu191Phe
ENST00000649704.1:c.573A>T ENSP00000497680.1:p.Leu191Phe
ENST00000679563.1:c.573A>T ENSP00000506503.1:p.Leu191Phe
ENST00000679930.1:c.*92A>T ENSP00000506293.1:n.*92A>T
ENST00000281317.9:c.573A>T ENSP00000281317.5:p.Leu191Phe
ENST00000506919.1:n.1061A>T
ENST00000511969.4:c.573A>T ENSP00000427422.1:p.Leu191Phe
ENST00000541599.4:c.573A>T ENSP00000442284.2:p.Leu191Phe
NM_172250.2:c.573A>T NP_758454.1:p.Leu191Phe
XM_011531684.1:c.573A>T XP_011529986.1:p.Leu191Phe
XM_011531685.1:c.573A>T XP_011529987.1:p.Leu191Phe
XM_011531686.1:c.78A>T XP_011529988.1:p.Leu26Phe
NM_172250.3:c.573A>T MANE Select NP_758454.1:p.Leu191Phe
XM_011531684.3:c.573A>T XP_011529986.1:p.Leu191Phe
XM_011531685.2:c.573A>T XP_011529987.1:p.Leu191Phe
XM_011531686.2:c.78A>T XP_011529988.1:p.Leu26Phe
NM_001375644.1:c.573A>T NP_001362573.1:p.Leu191Phe