Canonical Allele Identifier: CA415258299

Gene: EMD

Linked Data

• dbSNP Id: rs782732591
• gnomAD v4: X-154380789-G-C
• MyVariant Identifiers: chrX:g.153609149G>C (hg19) ; chrX:g.154380789G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380789G>C , CM000685.2:g.154380789G>C	GRCh38
NC_000023.10:g.153609149G>C , CM000685.1:g.153609149G>C	GRCh37
NC_000023.9:g.153262343G>C	NCBI36
NG_008677.1:g.11354G>C , LRG_745:g.11354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.436G>C	ENSP00000507245.1:p.Glu146Gln
ENST00000682478.1:n.626G>C
ENST00000683576.1:n.626G>C
ENST00000683627.1:c.436G>C	ENSP00000507533.1:p.Glu146Gln
ENST00000684082.1:c.393G>C	ENSP00000508266.1:n.393G>C
ENST00000684633.1:n.408G>C
ENST00000684678.1:c.432G>C	ENSP00000507059.1:n.432G>C
ENST00000369842.9:c.436G>C MANE Select	ENSP00000358857.4:p.Glu146Gln
ENST00000369835.3:c.331G>C	ENSP00000358850.3:p.Glu111Gln
ENST00000369842.8:c.436G>C	ENSP00000358857.4:p.Glu146Gln
ENST00000428228.5:c.*341G>C	ENSP00000401081.1:n.*341G>C
ENST00000468294.5:n.396G>C
ENST00000471965.1:n.225G>C
ENST00000485261.1:n.626G>C
ENST00000486738.5:n.794G>C
ENST00000492448.1:n.419G>C
NM_000117.2:c.436G>C , LRG_745t1:c.436G>C	NP_000108.1:p.Glu146Gln
XM_024452349.1:c.442G>C	XP_024308117.1:p.Glu148Gln
NM_000117.3:c.436G>C MANE Select	NP_000108.1:p.Glu146Gln