Canonical Allele Identifier: CA519277997

Gene: EMD

Linked Data

• gnomAD v4: X-154380235-C-T
• MyVariant Identifiers: chrX:g.153608595C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380235C>T , CM000685.2:g.154380235C>T	GRCh38
NC_000023.10:g.153608595C>T , CM000685.1:g.153608595C>T	GRCh37
NC_000023.9:g.153261789C>T	NCBI36
NG_008677.1:g.10800C>T , LRG_745:g.10800C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.267C>T	ENSP00000507245.1:p.Gly89=
ENST00000682478.1:n.457C>T
ENST00000683576.1:n.457C>T
ENST00000683627.1:c.267C>T	ENSP00000507533.1:p.Gly89=
ENST00000684082.1:c.266-42C>T	ENSP00000508266.1:n.266-42C>T
ENST00000684633.1:n.239C>T
ENST00000684678.1:c.263C>T	ENSP00000507059.1:n.263C>T
ENST00000369842.9:c.267C>T MANE Select	ENSP00000358857.4:p.Gly89=
ENST00000369835.3:c.162C>T	ENSP00000358850.3:p.Gly54=
ENST00000369842.8:c.267C>T	ENSP00000358857.4:p.Gly89=
ENST00000428228.5:c.*172C>T	ENSP00000401081.1:n.*172C>T
ENST00000468294.5:n.227C>T
ENST00000485261.1:n.457C>T
ENST00000486738.5:n.625C>T
ENST00000492448.1:n.250C>T
ENST00000494443.5:n.538C>T
NM_000117.2:c.267C>T , LRG_745t1:c.267C>T	NP_000108.1:p.Gly89=
XM_024452349.1:c.273C>T	XP_024308117.1:p.Gly91=
NM_000117.3:c.267C>T MANE Select	NP_000108.1:p.Gly89=