Canonical Allele Identifier: CA1501207244

Gene: MMAA

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_172250.3:c.988C= MANE Select	NP_758454.1:p.Arg330=
ENST00000649156.2:c.988C= MANE Select	ENSP00000497008.1:p.Arg330=
NM_001375644.1:c.988C=	NP_001362573.1:p.Arg330=
NM_172250.2:c.988C=	NP_758454.1:p.Arg330=
ENST00000281317.9:c.988C=	ENSP00000281317.5:p.Arg330=
ENST00000503730.1:n.398C=
ENST00000511969.4:c.*119C=	ENSP00000427422.1:n.*119C=
ENST00000541599.4:c.988C=	ENSP00000442284.2:p.Arg330=
ENST00000541599.5:c.988C=	ENSP00000442284.3:p.Arg330=
ENST00000647947.1:c.*772C=	ENSP00000496781.1:n.*772C=
ENST00000648388.1:c.988C=	ENSP00000497046.1:p.Arg330=
ENST00000649173.1:c.922C=	ENSP00000497871.1:p.Arg308=
ENST00000649704.1:c.988C=	ENSP00000497680.1:p.Arg330=
ENST00000679563.1:c.988C=	ENSP00000506503.1:p.Arg330=
ENST00000679930.1:c.*507C=	ENSP00000506293.1:n.*507C=
XM_011531684.1:c.988C=	XP_011529986.1:p.Arg330=
XM_011531684.3:c.988C=	XP_011529986.1:p.Arg330=
XM_011531685.1:c.988C=	XP_011529987.1:p.Arg330=
XM_011531685.2:c.988C=	XP_011529987.1:p.Arg330=
XM_011531686.1:c.493C=	XP_011529988.1:p.Arg165=
XM_011531686.2:c.493C=	XP_011529988.1:p.Arg165=