Canonical Allele Identifier: CA415256899
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379510A>T , CM000685.2:g.154379510A>T GRCh38
NC_000023.10:g.153607870A>T , CM000685.1:g.153607870A>T GRCh37
NC_000023.9:g.153261064A>T NCBI36
NG_008677.1:g.10075A>T , LRG_745:g.10075A>T
NG_011506.1:g.137T>A
NG_011506.2:g.129T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.26A>T ENSP00000507245.1:p.Asp9Val
ENST00000682478.1:n.2A>T
ENST00000683576.1:n.2A>T
ENST00000683627.1:c.26A>T ENSP00000507533.1:p.Asp9Val
ENST00000684082.1:c.26A>T ENSP00000508266.1:p.Asp9Val
ENST00000684633.1:n.2A>T
ENST00000684678.1:c.26A>T ENSP00000507059.1:p.Asp9Val
ENST00000369842.9:c.26A>T MANE Select ENSP00000358857.4:p.Asp9Val
ENST00000369835.3:c.26A>T ENSP00000358850.3:p.Asp9Val
ENST00000369842.8:c.26A>T ENSP00000358857.4:p.Asp9Val
ENST00000428228.5:c.26A>T ENSP00000401081.1:p.Asp9Val
ENST00000485261.1:n.107A>T
ENST00000486738.5:n.170A>T
ENST00000494443.5:n.83A>T
NM_000117.2:c.26A>T , LRG_745t1:c.26A>T NP_000108.1:p.Asp9Val
XM_024452349.1:c.-183A>T XP_024308117.1:n.-183A>T
NM_000117.3:c.26A>T MANE Select NP_000108.1:p.Asp9Val