Canonical Allele Identifier: CA415258837
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380994A>G , CM000685.2:g.154380994A>G GRCh38
NC_000023.10:g.153609354A>G , CM000685.1:g.153609354A>G GRCh37
NC_000023.9:g.153262548A>G NCBI36
NG_008677.1:g.11559A>G , LRG_745:g.11559A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.562A>G ENSP00000507245.1:p.Thr188Ala
ENST00000682478.1:n.752A>G
ENST00000683576.1:n.752A>G
ENST00000683627.1:c.562A>G ENSP00000507533.1:p.Thr188Ala
ENST00000684082.1:c.519A>G ENSP00000508266.1:n.519A>G
ENST00000684633.1:n.534A>G
ENST00000684678.1:c.558A>G ENSP00000507059.1:n.558A>G
ENST00000369842.9:c.562A>G MANE Select ENSP00000358857.4:p.Thr188Ala
ENST00000369835.3:c.457A>G ENSP00000358850.3:p.Thr153Ala
ENST00000369842.8:c.562A>G ENSP00000358857.4:p.Thr188Ala
ENST00000428228.5:c.*467A>G ENSP00000401081.1:n.*467A>G
ENST00000471965.1:n.351A>G
ENST00000486738.5:n.999A>G
ENST00000492448.1:n.545A>G
NM_000117.2:c.562A>G , LRG_745t1:c.562A>G NP_000108.1:p.Thr188Ala
XM_024452349.1:c.568A>G XP_024308117.1:p.Thr190Ala
NM_000117.3:c.562A>G MANE Select NP_000108.1:p.Thr188Ala