Canonical Allele Identifier: CA1501192850

Gene: MMAA

Linked Data

• dbSNP Id: rs1727719983

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639436_145639437dup , CM000666.2:g.145639436_145639437dup	GRCh38
NC_000004.11:g.146560588_146560589dup , CM000666.1:g.146560588_146560589dup	GRCh37
NC_000004.10:g.146780038_146780039dup	NCBI36
NG_007536.1:g.25139_25140dup
NG_007536.2:g.45395_45396dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.297_298dup	ENSP00000442284.3:p.Cys100SerfsTer3
ENST00000647947.1:c.297_298dup	ENSP00000496781.1:p.Cys100SerfsTer3
ENST00000648388.1:c.297_298dup	ENSP00000497046.1:p.Cys100SerfsTer3
ENST00000649156.2:c.297_298dup MANE Select	ENSP00000497008.1:p.Cys100SerfsTer3
ENST00000649173.1:c.297_298dup	ENSP00000497871.1:p.Cys100SerfsTer3
ENST00000649704.1:c.297_298dup	ENSP00000497680.1:p.Cys100SerfsTer3
ENST00000679563.1:c.297_298dup	ENSP00000506503.1:p.Cys100SerfsTer3
ENST00000679930.1:c.297_298dup	ENSP00000506293.1:p.Cys100SerfsTer3
ENST00000281317.9:c.297_298dup	ENSP00000281317.5:p.Cys100SerfsTer3
ENST00000506919.1:n.785_786dup
ENST00000511969.4:c.297_298dup	ENSP00000427422.1:p.Cys100SerfsTer3
ENST00000541599.4:c.297_298dup	ENSP00000442284.2:p.Cys100SerfsTer3
NM_172250.2:c.297_298dup	NP_758454.1:p.Cys100SerfsTer3
XM_011531684.1:c.297_298dup	XP_011529986.1:p.Cys100SerfsTer3
XM_011531685.1:c.297_298dup	XP_011529987.1:p.Cys100SerfsTer3
NM_172250.3:c.297_298dup MANE Select	NP_758454.1:p.Cys100SerfsTer3
XM_011531684.3:c.297_298dup	XP_011529986.1:p.Cys100SerfsTer3
XM_011531685.2:c.297_298dup	XP_011529987.1:p.Cys100SerfsTer3
XM_011531686.2:c.-487_-486dup	XP_011529988.1:n.-487_-486dup
NM_001375644.1:c.297_298dup	NP_001362573.1:p.Cys100SerfsTer3