Canonical Allele Identifier: CA415258788

Gene: EMD

Linked Data

• ClinVar Variation Id: 1038252
• ClinVar RCV Id: RCV001341532
• dbSNP Id: rs104894806
• gnomAD v4: X-154380979-C-T
• MyVariant Identifiers: chrX:g.153609339C>T (hg19) ; chrX:g.154380979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380979C>T , CM000685.2:g.154380979C>T	GRCh38
NC_000023.10:g.153609339C>T , CM000685.1:g.153609339C>T	GRCh37
NC_000023.9:g.153262533C>T	NCBI36
NG_008677.1:g.11544C>T , LRG_745:g.11544C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.547C>T	ENSP00000507245.1:p.Pro183Ser
ENST00000682478.1:n.737C>T
ENST00000683576.1:n.737C>T
ENST00000683627.1:c.547C>T	ENSP00000507533.1:p.Pro183Ser
ENST00000684082.1:c.504C>T	ENSP00000508266.1:n.504C>T
ENST00000684633.1:n.519C>T
ENST00000684678.1:c.543C>T	ENSP00000507059.1:n.543C>T
ENST00000369842.9:c.547C>T MANE Select	ENSP00000358857.4:p.Pro183Ser
ENST00000369835.3:c.442C>T	ENSP00000358850.3:p.Pro148Ser
ENST00000369842.8:c.547C>T	ENSP00000358857.4:p.Pro183Ser
ENST00000428228.5:c.*452C>T	ENSP00000401081.1:n.*452C>T
ENST00000471965.1:n.336C>T
ENST00000486738.5:n.984C>T
ENST00000492448.1:n.530C>T
NM_000117.2:c.547C>T , LRG_745t1:c.547C>T	NP_000108.1:p.Pro183Ser
XM_024452349.1:c.553C>T	XP_024308117.1:p.Pro185Ser
NM_000117.3:c.547C>T MANE Select	NP_000108.1:p.Pro183Ser