Canonical Allele Identifier: CA347896

Gene: MMAA

Linked Data

• ClinVar Variation Id: 218977
• ClinVar RCV Id: RCV000203378 ; RCV002509299
• dbSNP Id: rs864309730
• MyVariant Identifiers: chr4:g.146567228G>A (hg19) ; chr4:g.145646076G>A (hg38)
• PubMed: PMID:20301409

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145646076G>A , CM000666.2:g.145646076G>A	GRCh38
NC_000004.11:g.146567228G>A , CM000666.1:g.146567228G>A	GRCh37
NC_000004.10:g.146786678G>A	NCBI36
NG_007536.1:g.31779G>A
NG_007536.2:g.52035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.653G>A	ENSP00000442284.3:p.Gly218Glu
ENST00000647947.1:c.*437G>A	ENSP00000496781.1:n.*437G>A
ENST00000648388.1:c.653G>A	ENSP00000497046.1:p.Gly218Glu
ENST00000649156.2:c.653G>A MANE Select	ENSP00000497008.1:p.Gly218Glu
ENST00000649173.1:c.653G>A	ENSP00000497871.1:p.Gly218Glu
ENST00000649704.1:c.653G>A	ENSP00000497680.1:p.Gly218Glu
ENST00000679563.1:c.653G>A	ENSP00000506503.1:p.Gly218Glu
ENST00000679930.1:c.*172G>A	ENSP00000506293.1:n.*172G>A
ENST00000281317.9:c.653G>A	ENSP00000281317.5:p.Gly218Glu
ENST00000506919.1:n.1141G>A
ENST00000511969.4:c.653G>A	ENSP00000427422.1:p.Gly218Glu
ENST00000541599.4:c.653G>A	ENSP00000442284.2:p.Gly218Glu
NM_172250.2:c.653G>A	NP_758454.1:p.Gly218Glu
XM_011531684.1:c.653G>A	XP_011529986.1:p.Gly218Glu
XM_011531685.1:c.653G>A	XP_011529987.1:p.Gly218Glu
XM_011531686.1:c.158G>A	XP_011529988.1:p.Gly53Glu
NM_172250.3:c.653G>A MANE Select	NP_758454.1:p.Gly218Glu
XM_011531684.3:c.653G>A	XP_011529986.1:p.Gly218Glu
XM_011531685.2:c.653G>A	XP_011529987.1:p.Gly218Glu
XM_011531686.2:c.158G>A	XP_011529988.1:p.Gly53Glu
NM_001375644.1:c.653G>A	NP_001362573.1:p.Gly218Glu