Canonical Allele Identifier: CA1501207395

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655314C= , CM000666.2:g.145655314C=	GRCh38
NC_000004.11:g.146576466C= , CM000666.1:g.146576466C=	GRCh37
NC_000004.10:g.146795916C=	NCBI36
NG_007536.1:g.41017C=
NG_007536.2:g.61273C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.1137C=	ENSP00000442284.3:p.Phe379=
ENST00000647947.1:c.*921C=	ENSP00000496781.1:n.*921C=
ENST00000648388.1:c.1137C=	ENSP00000497046.1:p.Phe379=
ENST00000649156.2:c.1137C= MANE Select	ENSP00000497008.1:p.Phe379=
ENST00000649173.1:c.1071C=	ENSP00000497871.1:p.Phe357=
ENST00000649704.1:c.1137C=	ENSP00000497680.1:p.Phe379=
ENST00000679563.1:c.1137C=	ENSP00000506503.1:p.Phe379=
ENST00000679930.1:c.*656C=	ENSP00000506293.1:n.*656C=
ENST00000281317.9:c.1137C=	ENSP00000281317.5:p.Phe379=
ENST00000503730.1:n.547C=
ENST00000511969.4:c.*268C=	ENSP00000427422.1:n.*268C=
ENST00000541599.4:c.1137C=	ENSP00000442284.2:p.Phe379=
NM_172250.2:c.1137C=	NP_758454.1:p.Phe379=
XM_011531684.1:c.1137C=	XP_011529986.1:p.Phe379=
XM_011531685.1:c.1137C=	XP_011529987.1:p.Phe379=
XM_011531686.1:c.642C=	XP_011529988.1:p.Phe214=
NM_172250.3:c.1137C= MANE Select	NP_758454.1:p.Phe379=
XM_011531684.3:c.1137C=	XP_011529986.1:p.Phe379=
XM_011531685.2:c.1137C=	XP_011529987.1:p.Phe379=
XM_011531686.2:c.642C=	XP_011529988.1:p.Phe214=
NM_001375644.1:c.1137C=	NP_001362573.1:p.Phe379=