Canonical Allele Identifier: CA519277984

Gene: EMD

Linked Data

• dbSNP Id: rs1557182383
• gnomAD v2: X-153608375-C-T
• MyVariant Identifiers: chrX:g.153608375C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380015C>T , CM000685.2:g.154380015C>T	GRCh38
NC_000023.10:g.153608375C>T , CM000685.1:g.153608375C>T	GRCh37
NC_000023.9:g.153261569C>T	NCBI36
NG_008677.1:g.10580C>T , LRG_745:g.10580C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.261C>T	ENSP00000507245.1:p.Ser87=
ENST00000682478.1:n.237C>T
ENST00000683576.1:n.237C>T
ENST00000683627.1:c.261C>T	ENSP00000507533.1:p.Ser87=
ENST00000684082.1:c.261C>T	ENSP00000508266.1:p.Ser87=
ENST00000684633.1:n.233C>T
ENST00000684678.1:c.257C>T	ENSP00000507059.1:n.257C>T
ENST00000369842.9:c.261C>T MANE Select	ENSP00000358857.4:p.Ser87=
ENST00000369835.3:c.156C>T	ENSP00000358850.3:p.Ser52=
ENST00000369842.8:c.261C>T	ENSP00000358857.4:p.Ser87=
ENST00000428228.5:c.*166C>T	ENSP00000401081.1:n.*166C>T
ENST00000468294.5:n.221C>T
ENST00000485261.1:n.237C>T
ENST00000486738.5:n.405C>T
ENST00000492448.1:n.244C>T
ENST00000494443.5:n.318C>T
NM_000117.2:c.261C>T , LRG_745t1:c.261C>T	NP_000108.1:p.Ser87=
XM_024452349.1:c.53C>T	XP_024308117.1:p.Ala18Val
NM_000117.3:c.261C>T MANE Select	NP_000108.1:p.Ser87=