Canonical Allele Identifier: CA1501207213

Gene: MMAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655147G= , CM000666.2:g.145655147G=	GRCh38
NC_000004.11:g.146576299G= , CM000666.1:g.146576299G=	GRCh37
NC_000004.10:g.146795749G=	NCBI36
NG_007536.1:g.40850G=
NG_007536.2:g.61106G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.970G=	ENSP00000442284.3:p.Val324=
ENST00000647947.1:c.*754G=	ENSP00000496781.1:n.*754G=
ENST00000648388.1:c.970G=	ENSP00000497046.1:p.Val324=
ENST00000649156.2:c.970G= MANE Select	ENSP00000497008.1:p.Val324=
ENST00000649173.1:c.904G=	ENSP00000497871.1:p.Val302=
ENST00000649704.1:c.970G=	ENSP00000497680.1:p.Val324=
ENST00000679563.1:c.970G=	ENSP00000506503.1:p.Val324=
ENST00000679930.1:c.*489G=	ENSP00000506293.1:n.*489G=
ENST00000281317.9:c.970G=	ENSP00000281317.5:p.Val324=
ENST00000503730.1:n.380G=
ENST00000511969.4:c.*101G=	ENSP00000427422.1:n.*101G=
ENST00000541599.4:c.970G=	ENSP00000442284.2:p.Val324=
NM_172250.2:c.970G=	NP_758454.1:p.Val324=
XM_011531684.1:c.970G=	XP_011529986.1:p.Val324=
XM_011531685.1:c.970G=	XP_011529987.1:p.Val324=
XM_011531686.1:c.475G=	XP_011529988.1:p.Val159=
NM_172250.3:c.970G= MANE Select	NP_758454.1:p.Val324=
XM_011531684.3:c.970G=	XP_011529986.1:p.Val324=
XM_011531685.2:c.970G=	XP_011529987.1:p.Val324=
XM_011531686.2:c.475G=	XP_011529988.1:p.Val159=
NM_001375644.1:c.970G=	NP_001362573.1:p.Val324=