Canonical Allele Identifier: CA10561604

Gene: EMD

Linked Data

• ClinVar Variation Id: 237013
• ClinVar RCV Id: RCV000725641 ; RCV000770590 ; RCV001081535 ; RCV001729471 ; RCV002327099 ; RCV001828104
• dbSNP Id: rs139983160
• ExAC: X:153609141 C / T
• gnomAD v2: X-153609141-C-T
• gnomAD v3: X-154380781-C-T
• gnomAD v4: X-154380781-C-T
• MyVariant Identifiers: chrX:g.153609141C>T (hg19) ; chrX:g.154380781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380781C>T , CM000685.2:g.154380781C>T	GRCh38
NC_000023.10:g.153609141C>T , CM000685.1:g.153609141C>T	GRCh37
NC_000023.9:g.153262335C>T	NCBI36
NG_008677.1:g.11346C>T , LRG_745:g.11346C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.428C>T	ENSP00000507245.1:p.Ser143Phe
ENST00000682478.1:n.618C>T
ENST00000683576.1:n.618C>T
ENST00000683627.1:c.428C>T	ENSP00000507533.1:p.Ser143Phe
ENST00000684082.1:c.385C>T	ENSP00000508266.1:n.385C>T
ENST00000684633.1:n.400C>T
ENST00000684678.1:c.424C>T	ENSP00000507059.1:n.424C>T
ENST00000369842.9:c.428C>T MANE Select	ENSP00000358857.4:p.Ser143Phe
ENST00000369835.3:c.323C>T	ENSP00000358850.3:p.Ser108Phe
ENST00000369842.8:c.428C>T	ENSP00000358857.4:p.Ser143Phe
ENST00000428228.5:c.*333C>T	ENSP00000401081.1:n.*333C>T
ENST00000468294.5:n.388C>T
ENST00000471965.1:n.217C>T
ENST00000485261.1:n.618C>T
ENST00000486738.5:n.786C>T
ENST00000492448.1:n.411C>T
NM_000117.2:c.428C>T , LRG_745t1:c.428C>T	NP_000108.1:p.Ser143Phe
XM_024452349.1:c.434C>T	XP_024308117.1:p.Ser145Phe
NM_000117.3:c.428C>T MANE Select	NP_000108.1:p.Ser143Phe