Canonical Allele Identifier: CA415258800

Gene: EMD

Linked Data

• gnomAD v4: X-154380983-C-G
• MyVariant Identifiers: chrX:g.153609343C>G (hg19) ; chrX:g.154380983C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380983C>G , CM000685.2:g.154380983C>G	GRCh38
NC_000023.10:g.153609343C>G , CM000685.1:g.153609343C>G	GRCh37
NC_000023.9:g.153262537C>G	NCBI36
NG_008677.1:g.11548C>G , LRG_745:g.11548C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.551C>G	ENSP00000507245.1:p.Thr184Ser
ENST00000682478.1:n.741C>G
ENST00000683576.1:n.741C>G
ENST00000683627.1:c.551C>G	ENSP00000507533.1:p.Thr184Ser
ENST00000684082.1:c.508C>G	ENSP00000508266.1:n.508C>G
ENST00000684633.1:n.523C>G
ENST00000684678.1:c.547C>G	ENSP00000507059.1:n.547C>G
ENST00000369842.9:c.551C>G MANE Select	ENSP00000358857.4:p.Thr184Ser
ENST00000369835.3:c.446C>G	ENSP00000358850.3:p.Thr149Ser
ENST00000369842.8:c.551C>G	ENSP00000358857.4:p.Thr184Ser
ENST00000428228.5:c.*456C>G	ENSP00000401081.1:n.*456C>G
ENST00000471965.1:n.340C>G
ENST00000486738.5:n.988C>G
ENST00000492448.1:n.534C>G
NM_000117.2:c.551C>G , LRG_745t1:c.551C>G	NP_000108.1:p.Thr184Ser
XM_024452349.1:c.557C>G	XP_024308117.1:p.Thr186Ser
NM_000117.3:c.551C>G MANE Select	NP_000108.1:p.Thr184Ser