Canonical Allele Identifier: CA10603420

Gene: EMD

Linked Data

• ClinVar Variation Id: 280644
• ClinVar RCV Id: RCV000406349
• dbSNP Id: rs782222974
• MyVariant Identifiers: chrX:g.153608070G>T (hg19) ; chrX:g.154379710G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379710G>T , CM000685.2:g.154379710G>T	GRCh38
NC_000023.10:g.153608070G>T , CM000685.1:g.153608070G>T	GRCh37
NC_000023.9:g.153261264G>T	NCBI36
NG_008677.1:g.10275G>T , LRG_745:g.10275G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.103G>T	ENSP00000507245.1:p.Glu35Ter
ENST00000682478.1:n.79G>T
ENST00000683576.1:n.79G>T
ENST00000683627.1:c.103G>T	ENSP00000507533.1:p.Glu35Ter
ENST00000684082.1:c.103G>T	ENSP00000508266.1:p.Glu35Ter
ENST00000684633.1:n.75G>T
ENST00000684678.1:c.99G>T	ENSP00000507059.1:p.Thr33=
ENST00000369842.9:c.103G>T MANE Select	ENSP00000358857.4:p.Glu35Ter
ENST00000369835.3:c.82+144G>T	ENSP00000358850.3:n.82+144G>T
ENST00000369842.8:c.103G>T	ENSP00000358857.4:p.Glu35Ter
ENST00000428228.5:c.*8G>T	ENSP00000401081.1:n.*8G>T
ENST00000468294.5:n.63G>T
ENST00000485261.1:n.163+144G>T
ENST00000486738.5:n.247G>T
ENST00000492448.1:n.86G>T
ENST00000494443.5:n.160G>T
NM_000117.2:c.103G>T , LRG_745t1:c.103G>T	NP_000108.1:p.Glu35Ter
XM_024452349.1:c.-106G>T	XP_024308117.1:n.-106G>T
NM_000117.3:c.103G>T MANE Select	NP_000108.1:p.Glu35Ter