Canonical Allele Identifier: CA16609156

Gene: EMD

Linked Data

• ClinVar Variation Id: 382174
• ClinVar RCV Id: RCV000421335 ; RCV002411328 ; RCV000726639 ; RCV001400969 ; RCV001828412
• dbSNP Id: rs900267221
• gnomAD v2: X-153608138-C-T
• gnomAD v3: X-154379778-C-T
• gnomAD v4: X-154379778-C-T
• MyVariant Identifiers: chrX:g.153608138C>T (hg19) ; chrX:g.154379778C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379778C>T , CM000685.2:g.154379778C>T	GRCh38
NC_000023.10:g.153608138C>T , CM000685.1:g.153608138C>T	GRCh37
NC_000023.9:g.153261332C>T	NCBI36
NG_008677.1:g.10343C>T , LRG_745:g.10343C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.171C>T	ENSP00000507245.1:p.Ser57=
ENST00000682478.1:n.147C>T
ENST00000683576.1:n.147C>T
ENST00000683627.1:c.171C>T	ENSP00000507533.1:p.Ser57=
ENST00000684082.1:c.171C>T	ENSP00000508266.1:p.Ser57=
ENST00000684633.1:n.143C>T
ENST00000684678.1:c.167C>T	ENSP00000507059.1:p.Pro56Leu
ENST00000369842.9:c.171C>T MANE Select	ENSP00000358857.4:p.Ser57=
ENST00000369835.3:c.83-164C>T	ENSP00000358850.3:n.83-164C>T
ENST00000369842.8:c.171C>T	ENSP00000358857.4:p.Ser57=
ENST00000428228.5:c.*76C>T	ENSP00000401081.1:n.*76C>T
ENST00000468294.5:n.131C>T
ENST00000485261.1:n.164-164C>T
ENST00000486738.5:n.315C>T
ENST00000492448.1:n.154C>T
ENST00000494443.5:n.228C>T
NM_000117.2:c.171C>T , LRG_745t1:c.171C>T	NP_000108.1:p.Ser57=
XM_024452349.1:c.-38C>T	XP_024308117.1:n.-38C>T
NM_000117.3:c.171C>T MANE Select	NP_000108.1:p.Ser57=