Canonical Allele Identifier: CA415257166
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379561T>A , CM000685.2:g.154379561T>A GRCh38
NC_000023.10:g.153607921T>A , CM000685.1:g.153607921T>A GRCh37
NC_000023.9:g.153261115T>A NCBI36
NG_008677.1:g.10126T>A , LRG_745:g.10126T>A
NG_011506.1:g.86A>T
NG_011506.2:g.78A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.77T>A ENSP00000507245.1:p.Val26Glu
ENST00000682478.1:n.53T>A
ENST00000683576.1:n.53T>A
ENST00000683627.1:c.77T>A ENSP00000507533.1:p.Val26Glu
ENST00000684082.1:c.77T>A ENSP00000508266.1:p.Val26Glu
ENST00000684633.1:n.53T>A
ENST00000684678.1:c.77T>A ENSP00000507059.1:p.Val26Glu
ENST00000369842.9:c.77T>A MANE Select ENSP00000358857.4:p.Val26Glu
ENST00000369835.3:c.77T>A ENSP00000358850.3:p.Val26Glu
ENST00000369842.8:c.77T>A ENSP00000358857.4:p.Val26Glu
ENST00000428228.5:c.53+24T>A ENSP00000401081.1:n.53+24T>A
ENST00000468294.5:n.37T>A
ENST00000485261.1:n.158T>A
ENST00000486738.5:n.221T>A
ENST00000494443.5:n.134T>A
NM_000117.2:c.77T>A , LRG_745t1:c.77T>A NP_000108.1:p.Val26Glu
XM_024452349.1:c.-132T>A XP_024308117.1:n.-132T>A
NM_000117.3:c.77T>A MANE Select NP_000108.1:p.Val26Glu