Canonical Allele Identifier: CA415258309

Gene: EMD

Linked Data

• gnomAD v4: X-154380791-G-C
• MyVariant Identifiers: chrX:g.153609151G>C (hg19) ; chrX:g.154380791G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380791G>C , CM000685.2:g.154380791G>C	GRCh38
NC_000023.10:g.153609151G>C , CM000685.1:g.153609151G>C	GRCh37
NC_000023.9:g.153262345G>C	NCBI36
NG_008677.1:g.11356G>C , LRG_745:g.11356G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.438G>C	ENSP00000507245.1:p.Glu146Asp
ENST00000682478.1:n.628G>C
ENST00000683576.1:n.628G>C
ENST00000683627.1:c.438G>C	ENSP00000507533.1:p.Glu146Asp
ENST00000684082.1:c.395G>C	ENSP00000508266.1:n.395G>C
ENST00000684633.1:n.410G>C
ENST00000684678.1:c.434G>C	ENSP00000507059.1:n.434G>C
ENST00000369842.9:c.438G>C MANE Select	ENSP00000358857.4:p.Glu146Asp
ENST00000369835.3:c.333G>C	ENSP00000358850.3:p.Glu111Asp
ENST00000369842.8:c.438G>C	ENSP00000358857.4:p.Glu146Asp
ENST00000428228.5:c.*343G>C	ENSP00000401081.1:n.*343G>C
ENST00000468294.5:n.398G>C
ENST00000471965.1:n.227G>C
ENST00000485261.1:n.628G>C
ENST00000486738.5:n.796G>C
ENST00000492448.1:n.421G>C
NM_000117.2:c.438G>C , LRG_745t1:c.438G>C	NP_000108.1:p.Glu146Asp
XM_024452349.1:c.444G>C	XP_024308117.1:p.Glu148Asp
NM_000117.3:c.438G>C MANE Select	NP_000108.1:p.Glu146Asp