Canonical Allele Identifier: CA1139658661

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145656655A>G , CM000666.2:g.145656655A>G	GRCh38
NC_000004.11:g.146577807A>G , CM000666.1:g.146577807A>G	GRCh37
NC_000004.10:g.146797257A>G	NCBI36
NG_007536.1:g.42358A>G
NG_007536.2:g.62614A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648388.1:c.*1221A>G	ENSP00000497046.1:n.*1221A>G
ENST00000649156.2:c.*1221A>G MANE Select	ENSP00000497008.1:n.*1221A>G
ENST00000679563.1:c.*1221A>G	ENSP00000506503.1:n.*1221A>G
ENST00000679930.1:c.*1997A>G	ENSP00000506293.1:n.*1997A>G
ENST00000281317.9:c.*1221A>G	ENSP00000281317.5:n.*1221A>G
NM_172250.2:c.*1221A>G	NP_758454.1:n.*1221A>G
XM_011531684.1:c.*1221A>G	XP_011529986.1:n.*1221A>G
XM_011531685.1:c.*1221A>G	XP_011529987.1:n.*1221A>G
XM_011531686.1:c.*1221A>G	XP_011529988.1:n.*1221A>G
NM_172250.3:c.*1221A>G MANE Select	NP_758454.1:n.*1221A>G
XM_011531684.3:c.*1221A>G	XP_011529986.1:n.*1221A>G
XM_011531685.2:c.*1221A>G	XP_011529987.1:n.*1221A>G
XM_011531686.2:c.*1221A>G	XP_011529988.1:n.*1221A>G
NM_001375644.1:c.*1221A>G	NP_001362573.1:n.*1221A>G