Canonical Allele Identifier: CA10561621
Gene: EMD HGNC NCBI

Linked Data

ClinVar Variation Id: 289762
dbSNP Id: rs782806462

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380892A>G , CM000685.2:g.154380892A>G GRCh38
NC_000023.10:g.153609252A>G , CM000685.1:g.153609252A>G GRCh37
NC_000023.9:g.153262446A>G NCBI36
NG_008677.1:g.11457A>G , LRG_745:g.11457A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.460A>G ENSP00000507245.1:p.Met154Val
ENST00000682478.1:n.650A>G
ENST00000683576.1:n.650A>G
ENST00000683627.1:c.460A>G ENSP00000507533.1:p.Met154Val
ENST00000684082.1:c.417A>G ENSP00000508266.1:n.417A>G
ENST00000684633.1:n.432A>G
ENST00000684678.1:c.456A>G ENSP00000507059.1:n.456A>G
ENST00000369842.9:c.460A>G MANE Select ENSP00000358857.4:p.Met154Val
ENST00000369835.3:c.355A>G ENSP00000358850.3:p.Met119Val
ENST00000369842.8:c.460A>G ENSP00000358857.4:p.Met154Val
ENST00000428228.5:c.*365A>G ENSP00000401081.1:n.*365A>G
ENST00000468294.5:n.499A>G
ENST00000471965.1:n.249A>G
ENST00000485261.1:n.729A>G
ENST00000486738.5:n.897A>G
ENST00000492448.1:n.443A>G
NM_000117.2:c.460A>G , LRG_745t1:c.460A>G NP_000108.1:p.Met154Val
XM_024452349.1:c.466A>G XP_024308117.1:p.Met156Val
NM_000117.3:c.460A>G MANE Select NP_000108.1:p.Met154Val