Canonical Allele Identifier: CA415257755
Gene: EMD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154380015C>A , CM000685.2:g.154380015C>A GRCh38
NC_000023.10:g.153608375C>A , CM000685.1:g.153608375C>A GRCh37
NC_000023.9:g.153261569C>A NCBI36
NG_008677.1:g.10580C>A , LRG_745:g.10580C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.261C>A ENSP00000507245.1:p.Ser87Arg
ENST00000682478.1:n.237C>A
ENST00000683576.1:n.237C>A
ENST00000683627.1:c.261C>A ENSP00000507533.1:p.Ser87Arg
ENST00000684082.1:c.261C>A ENSP00000508266.1:p.Ser87Arg
ENST00000684633.1:n.233C>A
ENST00000684678.1:c.257C>A ENSP00000507059.1:n.257C>A
ENST00000369842.9:c.261C>A MANE Select ENSP00000358857.4:p.Ser87Arg
ENST00000369835.3:c.156C>A ENSP00000358850.3:p.Ser52Arg
ENST00000369842.8:c.261C>A ENSP00000358857.4:p.Ser87Arg
ENST00000428228.5:c.*166C>A ENSP00000401081.1:n.*166C>A
ENST00000468294.5:n.221C>A
ENST00000485261.1:n.237C>A
ENST00000486738.5:n.405C>A
ENST00000492448.1:n.244C>A
ENST00000494443.5:n.318C>A
NM_000117.2:c.261C>A , LRG_745t1:c.261C>A NP_000108.1:p.Ser87Arg
XM_024452349.1:c.53C>A XP_024308117.1:p.Ala18Glu
NM_000117.3:c.261C>A MANE Select NP_000108.1:p.Ser87Arg