Canonical Allele Identifier: CA519277844
Gene: EMD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153608054A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379694A>T , CM000685.2:g.154379694A>T GRCh38
NC_000023.10:g.153608054A>T , CM000685.1:g.153608054A>T GRCh37
NC_000023.9:g.153261248A>T NCBI36
NG_008677.1:g.10259A>T , LRG_745:g.10259A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.87A>T ENSP00000507245.1:p.Ser29=
ENST00000682478.1:n.63A>T
ENST00000683576.1:n.63A>T
ENST00000683627.1:c.87A>T ENSP00000507533.1:p.Ser29=
ENST00000684082.1:c.87A>T ENSP00000508266.1:p.Ser29=
ENST00000684633.1:n.59A>T
ENST00000684678.1:c.83A>T ENSP00000507059.1:p.Gln28Leu
ENST00000369842.9:c.87A>T MANE Select ENSP00000358857.4:p.Ser29=
ENST00000369835.3:c.82+128A>T ENSP00000358850.3:n.82+128A>T
ENST00000369842.8:c.87A>T ENSP00000358857.4:p.Ser29=
ENST00000428228.5:c.58A>T ENSP00000401081.1:p.Asn20Tyr
ENST00000468294.5:n.47A>T
ENST00000485261.1:n.163+128A>T
ENST00000486738.5:n.231A>T
ENST00000492448.1:n.70A>T
ENST00000494443.5:n.144A>T
NM_000117.2:c.87A>T , LRG_745t1:c.87A>T NP_000108.1:p.Ser29=
XM_024452349.1:c.-122A>T XP_024308117.1:n.-122A>T
NM_000117.3:c.87A>T MANE Select NP_000108.1:p.Ser29=