Canonical Allele Identifier: CA415257013

Gene: EMD

Linked Data

• gnomAD v4: X-154379533-C-T
• MyVariant Identifiers: chrX:g.153607893C>T (hg19) ; chrX:g.154379533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379533C>T , CM000685.2:g.154379533C>T	GRCh38
NC_000023.10:g.153607893C>T , CM000685.1:g.153607893C>T	GRCh37
NC_000023.9:g.153261087C>T	NCBI36
NG_008677.1:g.10098C>T , LRG_745:g.10098C>T
NG_011506.1:g.114G>A
NG_011506.2:g.106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.49C>T	ENSP00000507245.1:p.Arg17Cys
ENST00000682478.1:n.25C>T
ENST00000683576.1:n.25C>T
ENST00000683627.1:c.49C>T	ENSP00000507533.1:p.Arg17Cys
ENST00000684082.1:c.49C>T	ENSP00000508266.1:p.Arg17Cys
ENST00000684633.1:n.25C>T
ENST00000684678.1:c.49C>T	ENSP00000507059.1:p.Arg17Cys
ENST00000369842.9:c.49C>T MANE Select	ENSP00000358857.4:p.Arg17Cys
ENST00000369835.3:c.49C>T	ENSP00000358850.3:p.Arg17Cys
ENST00000369842.8:c.49C>T	ENSP00000358857.4:p.Arg17Cys
ENST00000428228.5:c.49C>T	ENSP00000401081.1:p.Arg17Cys
ENST00000468294.5:n.9C>T
ENST00000485261.1:n.130C>T
ENST00000486738.5:n.193C>T
ENST00000494443.5:n.106C>T
NM_000117.2:c.49C>T , LRG_745t1:c.49C>T	NP_000108.1:p.Arg17Cys
XM_024452349.1:c.-160C>T	XP_024308117.1:n.-160C>T
NM_000117.3:c.49C>T MANE Select	NP_000108.1:p.Arg17Cys