Canonical Allele Identifier: CA3095119

Gene: MMAA

Linked Data

• ClinVar Variation Id: 990263
• ClinVar RCV Id: RCV001278249
• dbSNP Id: rs367809749
• ExAC: 4:146560377 A / G
• gnomAD v2: 4-146560377-A-G
• gnomAD v3: 4-145639225-A-G
• gnomAD v4: 4-145639225-A-G
• MyVariant Identifiers: chr4:g.146560377A>G (hg19) ; chr4:g.146560377_146560378delinsGC (hg19) ; chr4:g.145639225A>G (hg38) ; chr4:g.145639225_145639226delinsGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145639225A>G , CM000666.2:g.145639225A>G	GRCh38
NC_000004.11:g.146560377A>G , CM000666.1:g.146560377A>G	GRCh37
NC_000004.10:g.146779827A>G	NCBI36
NG_007536.1:g.24928A>G
NG_007536.2:g.45184A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.86A>G	ENSP00000442284.3:p.His29Arg
ENST00000647947.1:c.86A>G	ENSP00000496781.1:p.His29Arg
ENST00000648388.1:c.86A>G	ENSP00000497046.1:p.His29Arg
ENST00000649156.2:c.86A>G MANE Select	ENSP00000497008.1:p.His29Arg
ENST00000649173.1:c.86A>G	ENSP00000497871.1:p.His29Arg
ENST00000649704.1:c.86A>G	ENSP00000497680.1:p.His29Arg
ENST00000679563.1:c.86A>G	ENSP00000506503.1:p.His29Arg
ENST00000679930.1:c.86A>G	ENSP00000506293.1:p.His29Arg
ENST00000281317.9:c.86A>G	ENSP00000281317.5:p.His29Arg
ENST00000506919.1:n.574A>G
ENST00000511969.4:c.86A>G	ENSP00000427422.1:p.His29Arg
ENST00000541599.4:c.86A>G	ENSP00000442284.2:p.His29Arg
NM_172250.2:c.86A>G	NP_758454.1:p.His29Arg
XM_011531684.1:c.86A>G	XP_011529986.1:p.His29Arg
XM_011531685.1:c.86A>G	XP_011529987.1:p.His29Arg
NM_172250.3:c.86A>G MANE Select	NP_758454.1:p.His29Arg
XM_011531684.3:c.86A>G	XP_011529986.1:p.His29Arg
XM_011531685.2:c.86A>G	XP_011529987.1:p.His29Arg
XM_011531686.2:c.-698A>G	XP_011529988.1:n.-698A>G
NM_001375644.1:c.86A>G	NP_001362573.1:p.His29Arg