Canonical Allele Identifier: CA3095131

Gene: MMAA

Linked Data

• dbSNP Id: rs750771861
• ExAC: 4:146560438 C / CT
• gnomAD v2: 4-146560438-C-CT
• MyVariant Identifiers: chr4:g.146560438_146560439insT (hg19) ; chr4:g.145639286_145639287insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639286_145639287insT , CM000666.2:g.145639286_145639287insT	GRCh38
NC_000004.11:g.146560438_146560439insT , CM000666.1:g.146560438_146560439insT	GRCh37
NC_000004.10:g.146779888_146779889insT	NCBI36
NG_007536.1:g.24989_24990insT
NG_007536.2:g.45245_45246insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.147_148insT	ENSP00000442284.3:p.His50SerfsTer?
ENST00000647947.1:c.147_148insT	ENSP00000496781.1:p.His50SerfsTer?
ENST00000648388.1:c.147_148insT	ENSP00000497046.1:p.His50SerfsTer?
ENST00000649156.2:c.147_148insT MANE Select	ENSP00000497008.1:p.His50SerfsTer?
ENST00000649173.1:c.147_148insT	ENSP00000497871.1:p.His50SerfsTer?
ENST00000649704.1:c.147_148insT	ENSP00000497680.1:p.His50SerfsTer?
ENST00000679563.1:c.147_148insT	ENSP00000506503.1:p.His50SerfsTer?
ENST00000679930.1:c.147_148insT	ENSP00000506293.1:p.His50SerfsTer?
ENST00000281317.9:c.147_148insT	ENSP00000281317.5:p.His50SerfsTer?
ENST00000506919.1:n.635_636insT
ENST00000511969.4:c.147_148insT	ENSP00000427422.1:p.His50SerfsTer?
ENST00000541599.4:c.147_148insT	ENSP00000442284.2:p.His50SerfsTer?
NM_172250.2:c.147_148insT	NP_758454.1:p.His50SerfsTer?
XM_011531684.1:c.147_148insT	XP_011529986.1:p.His50SerfsTer?
XM_011531685.1:c.147_148insT	XP_011529987.1:p.His50SerfsTer?
NM_172250.3:c.147_148insT MANE Select	NP_758454.1:p.His50SerfsTer?
XM_011531684.3:c.147_148insT	XP_011529986.1:p.His50SerfsTer?
XM_011531685.2:c.147_148insT	XP_011529987.1:p.His50SerfsTer?
XM_011531686.2:c.-637_-636insT	XP_011529988.1:n.-637_-636insT
NM_001375644.1:c.147_148insT	NP_001362573.1:p.His50SerfsTer?