Canonical Allele Identifier: CA358344811

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655165C>G , CM000666.2:g.145655165C>G	GRCh38
NC_000004.11:g.146576317C>G , CM000666.1:g.146576317C>G	GRCh37
NC_000004.10:g.146795767C>G	NCBI36
NG_007536.1:g.40868C>G
NG_007536.2:g.61124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.988C>G	ENSP00000442284.3:p.Arg330Gly
ENST00000647947.1:c.*772C>G	ENSP00000496781.1:n.*772C>G
ENST00000648388.1:c.988C>G	ENSP00000497046.1:p.Arg330Gly
ENST00000649156.2:c.988C>G MANE Select	ENSP00000497008.1:p.Arg330Gly
ENST00000649173.1:c.922C>G	ENSP00000497871.1:p.Arg308Gly
ENST00000649704.1:c.988C>G	ENSP00000497680.1:p.Arg330Gly
ENST00000679563.1:c.988C>G	ENSP00000506503.1:p.Arg330Gly
ENST00000679930.1:c.*507C>G	ENSP00000506293.1:n.*507C>G
ENST00000281317.9:c.988C>G	ENSP00000281317.5:p.Arg330Gly
ENST00000503730.1:n.398C>G
ENST00000511969.4:c.*119C>G	ENSP00000427422.1:n.*119C>G
ENST00000541599.4:c.988C>G	ENSP00000442284.2:p.Arg330Gly
NM_172250.2:c.988C>G	NP_758454.1:p.Arg330Gly
XM_011531684.1:c.988C>G	XP_011529986.1:p.Arg330Gly
XM_011531685.1:c.988C>G	XP_011529987.1:p.Arg330Gly
XM_011531686.1:c.493C>G	XP_011529988.1:p.Arg165Gly
NM_172250.3:c.988C>G MANE Select	NP_758454.1:p.Arg330Gly
XM_011531684.3:c.988C>G	XP_011529986.1:p.Arg330Gly
XM_011531685.2:c.988C>G	XP_011529987.1:p.Arg330Gly
XM_011531686.2:c.493C>G	XP_011529988.1:p.Arg165Gly
NM_001375644.1:c.988C>G	NP_001362573.1:p.Arg330Gly