Canonical Allele Identifier: CA519277796
Gene: EMD HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.153607886C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379526C>T , CM000685.2:g.154379526C>T GRCh38
NC_000023.10:g.153607886C>T , CM000685.1:g.153607886C>T GRCh37
NC_000023.9:g.153261080C>T NCBI36
NG_008677.1:g.10091C>T , LRG_745:g.10091C>T
NG_011506.1:g.121G>A
NG_011506.2:g.113G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682114.1:c.42C>T ENSP00000507245.1:p.Thr14=
ENST00000682478.1:n.18C>T
ENST00000683576.1:n.18C>T
ENST00000683627.1:c.42C>T ENSP00000507533.1:p.Thr14=
ENST00000684082.1:c.42C>T ENSP00000508266.1:p.Thr14=
ENST00000684633.1:n.18C>T
ENST00000684678.1:c.42C>T ENSP00000507059.1:p.Thr14=
ENST00000369842.9:c.42C>T MANE Select ENSP00000358857.4:p.Thr14=
ENST00000369835.3:c.42C>T ENSP00000358850.3:p.Thr14=
ENST00000369842.8:c.42C>T ENSP00000358857.4:p.Thr14=
ENST00000428228.5:c.42C>T ENSP00000401081.1:p.Thr14=
ENST00000468294.5:n.2C>T
ENST00000485261.1:n.123C>T
ENST00000486738.5:n.186C>T
ENST00000494443.5:n.99C>T
NM_000117.2:c.42C>T , LRG_745t1:c.42C>T NP_000108.1:p.Thr14=
XM_024452349.1:c.-167C>T XP_024308117.1:n.-167C>T
NM_000117.3:c.42C>T MANE Select NP_000108.1:p.Thr14=