Canonical Allele Identifier: CA3095218

Gene: MMAA

Linked Data

• ClinVar Variation Id: 347600
• ClinVar RCV Id: RCV000418167 ; RCV000878729 ; RCV001273688
• dbSNP Id: rs116773849
• ExAC: 4:146567172 G / A
• gnomAD v2: 4-146567172-G-A
• gnomAD v3: 4-145646020-G-A
• gnomAD v4: 4-145646020-G-A
• MyVariant Identifiers: chr4:g.146567172G>A (hg19) ; chr4:g.145646020G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145646020G>A , CM000666.2:g.145646020G>A	GRCh38
NC_000004.11:g.146567172G>A , CM000666.1:g.146567172G>A	GRCh37
NC_000004.10:g.146786622G>A	NCBI36
NG_007536.1:g.31723G>A
NG_007536.2:g.51979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.597G>A	ENSP00000442284.3:p.Glu199=
ENST00000647947.1:c.*381G>A	ENSP00000496781.1:n.*381G>A
ENST00000648388.1:c.597G>A	ENSP00000497046.1:p.Glu199=
ENST00000649156.2:c.597G>A MANE Select	ENSP00000497008.1:p.Glu199=
ENST00000649173.1:c.597G>A	ENSP00000497871.1:p.Glu199=
ENST00000649704.1:c.597G>A	ENSP00000497680.1:p.Glu199=
ENST00000679563.1:c.597G>A	ENSP00000506503.1:p.Glu199=
ENST00000679930.1:c.*116G>A	ENSP00000506293.1:n.*116G>A
ENST00000281317.9:c.597G>A	ENSP00000281317.5:p.Glu199=
ENST00000506919.1:n.1085G>A
ENST00000511969.4:c.597G>A	ENSP00000427422.1:p.Glu199=
ENST00000541599.4:c.597G>A	ENSP00000442284.2:p.Glu199=
NM_172250.2:c.597G>A	NP_758454.1:p.Glu199=
XM_011531684.1:c.597G>A	XP_011529986.1:p.Glu199=
XM_011531685.1:c.597G>A	XP_011529987.1:p.Glu199=
XM_011531686.1:c.102G>A	XP_011529988.1:p.Glu34=
NM_172250.3:c.597G>A MANE Select	NP_758454.1:p.Glu199=
XM_011531684.3:c.597G>A	XP_011529986.1:p.Glu199=
XM_011531685.2:c.597G>A	XP_011529987.1:p.Glu199=
XM_011531686.2:c.102G>A	XP_011529988.1:p.Glu34=
NM_001375644.1:c.597G>A	NP_001362573.1:p.Glu199=