Canonical Allele Identifier: CA2573138132

Gene: MMAA

Linked Data

• ClinVar Variation Id: 1374022
• ClinVar RCV Id: RCV001900507
• dbSNP Id: rs2126617138

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639266_145639273dup , CM000666.2:g.145639266_145639273dup	GRCh38
NC_000004.11:g.146560418_146560425dup , CM000666.1:g.146560418_146560425dup	GRCh37
NC_000004.10:g.146779868_146779875dup	NCBI36
NG_007536.1:g.24969_24976dup
NG_007536.2:g.45225_45232dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.127_134dup	ENSP00000442284.3:p.Ser46ArgfsTer19
ENST00000647947.1:c.127_134dup	ENSP00000496781.1:p.Ser46ArgfsTer19
ENST00000648388.1:c.127_134dup	ENSP00000497046.1:p.Ser46ArgfsTer19
ENST00000649156.2:c.127_134dup MANE Select	ENSP00000497008.1:p.Ser46ArgfsTer19
ENST00000649173.1:c.127_134dup	ENSP00000497871.1:p.Ser46ArgfsTer19
ENST00000649704.1:c.127_134dup	ENSP00000497680.1:p.Ser46ArgfsTer19
ENST00000679563.1:c.127_134dup	ENSP00000506503.1:p.Ser46ArgfsTer19
ENST00000679930.1:c.127_134dup	ENSP00000506293.1:p.Ser46ArgfsTer19
ENST00000281317.9:c.127_134dup	ENSP00000281317.5:p.Ser46ArgfsTer19
ENST00000506919.1:n.615_622dup
ENST00000511969.4:c.127_134dup	ENSP00000427422.1:p.Ser46ArgfsTer19
ENST00000541599.4:c.127_134dup	ENSP00000442284.2:p.Ser46ArgfsTer19
NM_172250.2:c.127_134dup	NP_758454.1:p.Ser46ArgfsTer19
XM_011531684.1:c.127_134dup	XP_011529986.1:p.Ser46ArgfsTer19
XM_011531685.1:c.127_134dup	XP_011529987.1:p.Ser46ArgfsTer19
NM_172250.3:c.127_134dup MANE Select	NP_758454.1:p.Ser46ArgfsTer19
XM_011531684.3:c.127_134dup	XP_011529986.1:p.Ser46ArgfsTer19
XM_011531685.2:c.127_134dup	XP_011529987.1:p.Ser46ArgfsTer19
XM_011531686.2:c.-657_-650dup	XP_011529988.1:n.-657_-650dup
NM_001375644.1:c.127_134dup	NP_001362573.1:p.Ser46ArgfsTer19