Canonical Allele Identifier: CA415256890
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379509G>C , CM000685.2:g.154379509G>C GRCh38
NC_000023.10:g.153607869G>C , CM000685.1:g.153607869G>C GRCh37
NC_000023.9:g.153261063G>C NCBI36
NG_008677.1:g.10074G>C , LRG_745:g.10074G>C
NG_011506.1:g.138C>G
NG_011506.2:g.130C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.25G>C ENSP00000507245.1:p.Asp9His
ENST00000682478.1:n.1G>C
ENST00000683576.1:n.1G>C
ENST00000683627.1:c.25G>C ENSP00000507533.1:p.Asp9His
ENST00000684082.1:c.25G>C ENSP00000508266.1:p.Asp9His
ENST00000684633.1:n.1G>C
ENST00000684678.1:c.25G>C ENSP00000507059.1:p.Asp9His
ENST00000369842.9:c.25G>C MANE Select ENSP00000358857.4:p.Asp9His
ENST00000369835.3:c.25G>C ENSP00000358850.3:p.Asp9His
ENST00000369842.8:c.25G>C ENSP00000358857.4:p.Asp9His
ENST00000428228.5:c.25G>C ENSP00000401081.1:p.Asp9His
ENST00000485261.1:n.106G>C
ENST00000486738.5:n.169G>C
ENST00000494443.5:n.82G>C
NM_000117.2:c.25G>C , LRG_745t1:c.25G>C NP_000108.1:p.Asp9His
XM_024452349.1:c.-184G>C XP_024308117.1:n.-184G>C
NM_000117.3:c.25G>C MANE Select NP_000108.1:p.Asp9His