Canonical Allele Identifier: CA312703
Gene: MMAA HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 203814
dbSNP Id: rs796051992

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145639526C>A , CM000666.2:g.145639526C>A GRCh38
NC_000004.11:g.146560678C>A , CM000666.1:g.146560678C>A GRCh37
NC_000004.10:g.146780128C>A NCBI36
NG_007536.1:g.25229C>A

Transcript Alleles

HGVS Amino-acid change
NM_172250.2:c.387C>A VV NP_758454.1:p.Tyr129Ter
XM_011531684.1:c.387C>A XP_011529986.1:p.Tyr129Ter
XM_011531685.1:c.387C>A XP_011529987.1:p.Tyr129Ter
NM_172250.3:c.387C>A VV MANE Preferred NP_758454.1:p.Tyr129Ter
XM_011531684.3:c.387C>A XP_011529986.1:p.Tyr129Ter
XM_011531685.2:c.387C>A XP_011529987.1:p.Tyr129Ter
XM_011531686.2:c.-397C>A XP_011529988.1:p.=
ENST00000281317.9:c.387C>A ENSP00000281317.5:p.Tyr129Ter
ENST00000506919.1:n.875C>A
ENST00000511969.4:c.387C>A ENSP00000427422.1:p.Tyr129Ter
ENST00000541599.4:c.387C>A ENSP00000442284.2:p.Tyr129Ter