Canonical Allele Identifier: CA519277840
Gene: EMD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153608051A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379691A>C , CM000685.2:g.154379691A>C GRCh38
NC_000023.10:g.153608051A>C , CM000685.1:g.153608051A>C GRCh37
NC_000023.9:g.153261245A>C NCBI36
NG_008677.1:g.10256A>C , LRG_745:g.10256A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.84A>C ENSP00000507245.1:p.Gly28=
ENST00000682478.1:n.60A>C
ENST00000683576.1:n.60A>C
ENST00000683627.1:c.84A>C ENSP00000507533.1:p.Gly28=
ENST00000684082.1:c.84A>C ENSP00000508266.1:p.Gly28=
ENST00000684633.1:n.56A>C
ENST00000684678.1:c.80A>C ENSP00000507059.1:p.Asp27Ala
ENST00000369842.9:c.84A>C MANE Select ENSP00000358857.4:p.Gly28=
ENST00000369835.3:c.82+125A>C ENSP00000358850.3:n.82+125A>C
ENST00000369842.8:c.84A>C ENSP00000358857.4:p.Gly28=
ENST00000428228.5:c.55A>C ENSP00000401081.1:p.Ile19Leu
ENST00000468294.5:n.44A>C
ENST00000485261.1:n.163+125A>C
ENST00000486738.5:n.228A>C
ENST00000492448.1:n.67A>C
ENST00000494443.5:n.141A>C
NM_000117.2:c.84A>C , LRG_745t1:c.84A>C NP_000108.1:p.Gly28=
XM_024452349.1:c.-125A>C XP_024308117.1:n.-125A>C
NM_000117.3:c.84A>C MANE Select NP_000108.1:p.Gly28=