Canonical Allele Identifier: CA873317656
Gene: EMD HGNC NCBI

Linked Data

dbSNP Id: rs1310477887
MyVariant Identifiers: chrX:g.154379607C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154379607C>T , CM000685.2:g.154379607C>T GRCh38
NC_000023.10:g.153607967C>T , CM000685.1:g.153607967C>T GRCh37
NC_000023.9:g.153261161C>T NCBI36
NG_008677.1:g.10172C>T , LRG_745:g.10172C>T
NG_011506.1:g.40G>A
NG_011506.2:g.32G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682114.1:c.82+41C>T ENSP00000507245.1:n.82+41C>T
ENST00000682478.1:n.58+41C>T
ENST00000683576.1:n.58+41C>T
ENST00000683627.1:c.82+41C>T ENSP00000507533.1:n.82+41C>T
ENST00000684082.1:c.82+41C>T ENSP00000508266.1:n.82+41C>T
ENST00000684633.1:n.54+45C>T
ENST00000684678.1:c.78+45C>T ENSP00000507059.1:n.78+45C>T
ENST00000369842.9:c.82+41C>T MANE Select ENSP00000358857.4:n.82+41C>T
ENST00000369835.3:c.82+41C>T ENSP00000358850.3:n.82+41C>T
ENST00000369842.8:c.82+41C>T ENSP00000358857.4:n.82+41C>T
ENST00000428228.5:c.53+70C>T ENSP00000401081.1:n.53+70C>T
ENST00000468294.5:n.42+41C>T
ENST00000485261.1:n.163+41C>T
ENST00000486738.5:n.226+41C>T
ENST00000494443.5:n.139+41C>T
NM_000117.2:c.82+41C>T , LRG_745t1:c.82+41C>T NP_000108.1:n.82+41C>T
XM_024452349.1:c.-127+41C>T XP_024308117.1:n.-127+41C>T
NM_000117.3:c.82+41C>T MANE Select NP_000108.1:n.82+41C>T