Canonical Allele Identifier: CA252607
Gene: MMAA HGNC NCBI

Linked Data

ClinVar Variation Id: 3159
ClinVar RCV Id: RCV000003309
dbSNP Id: rs104893849

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145646043A>G , CM000666.2:g.145646043A>G GRCh38
NC_000004.11:g.146567195A>G , CM000666.1:g.146567195A>G GRCh37
NC_000004.10:g.146786645A>G NCBI36
NG_007536.1:g.31746A>G
NG_007536.2:g.52002A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000541599.5:c.620A>G ENSP00000442284.3:p.Tyr207Cys
ENST00000647947.1:c.*404A>G ENSP00000496781.1:n.*404A>G
ENST00000648388.1:c.620A>G ENSP00000497046.1:p.Tyr207Cys
ENST00000649156.2:c.620A>G MANE Select ENSP00000497008.1:p.Tyr207Cys
ENST00000649173.1:c.620A>G ENSP00000497871.1:p.Tyr207Cys
ENST00000649704.1:c.620A>G ENSP00000497680.1:p.Tyr207Cys
ENST00000679563.1:c.620A>G ENSP00000506503.1:p.Tyr207Cys
ENST00000679930.1:c.*139A>G ENSP00000506293.1:n.*139A>G
ENST00000281317.9:c.620A>G ENSP00000281317.5:p.Tyr207Cys
ENST00000506919.1:n.1108A>G
ENST00000511969.4:c.620A>G ENSP00000427422.1:p.Tyr207Cys
ENST00000541599.4:c.620A>G ENSP00000442284.2:p.Tyr207Cys
NM_172250.2:c.620A>G NP_758454.1:p.Tyr207Cys
XM_011531684.1:c.620A>G XP_011529986.1:p.Tyr207Cys
XM_011531685.1:c.620A>G XP_011529987.1:p.Tyr207Cys
XM_011531686.1:c.125A>G XP_011529988.1:p.Tyr42Cys
NM_172250.3:c.620A>G MANE Select NP_758454.1:p.Tyr207Cys
XM_011531684.3:c.620A>G XP_011529986.1:p.Tyr207Cys
XM_011531685.2:c.620A>G XP_011529987.1:p.Tyr207Cys
XM_011531686.2:c.125A>G XP_011529988.1:p.Tyr42Cys
NM_001375644.1:c.620A>G NP_001362573.1:p.Tyr207Cys