Canonical Allele Identifier: CA358353128
Gene: MMAA HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.146560678C>G (hg19) chr4:g.145639526C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.145639526C>G , CM000666.2:g.145639526C>G GRCh38
NC_000004.11:g.146560678C>G , CM000666.1:g.146560678C>G GRCh37
NC_000004.10:g.146780128C>G NCBI36
NG_007536.1:g.25229C>G
NG_007536.2:g.45485C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000541599.5:c.387C>G ENSP00000442284.3:p.Tyr129Ter
ENST00000647947.1:c.387C>G ENSP00000496781.1:p.Tyr129Ter
ENST00000648388.1:c.387C>G ENSP00000497046.1:p.Tyr129Ter
ENST00000649156.2:c.387C>G MANE Select ENSP00000497008.1:p.Tyr129Ter
ENST00000649173.1:c.387C>G ENSP00000497871.1:p.Tyr129Ter
ENST00000649704.1:c.387C>G ENSP00000497680.1:p.Tyr129Ter
ENST00000679563.1:c.387C>G ENSP00000506503.1:p.Tyr129Ter
ENST00000679930.1:c.387C>G ENSP00000506293.1:p.Tyr129Ter
ENST00000281317.9:c.387C>G ENSP00000281317.5:p.Tyr129Ter
ENST00000506919.1:n.875C>G
ENST00000511969.4:c.387C>G ENSP00000427422.1:p.Tyr129Ter
ENST00000541599.4:c.387C>G ENSP00000442284.2:p.Tyr129Ter
NM_172250.2:c.387C>G NP_758454.1:p.Tyr129Ter
XM_011531684.1:c.387C>G XP_011529986.1:p.Tyr129Ter
XM_011531685.1:c.387C>G XP_011529987.1:p.Tyr129Ter
NM_172250.3:c.387C>G MANE Select NP_758454.1:p.Tyr129Ter
XM_011531684.3:c.387C>G XP_011529986.1:p.Tyr129Ter
XM_011531685.2:c.387C>G XP_011529987.1:p.Tyr129Ter
XM_011531686.2:c.-397C>G XP_011529988.1:n.-397C>G
NM_001375644.1:c.387C>G NP_001362573.1:p.Tyr129Ter
Search 100 bp 5'
Search 100 bp 3'