Canonical Allele Identifier: CA415257306

Gene: EMD

Linked Data

• ClinVar Variation Id: 1519495
• ClinVar RCV Id: RCV002024651 ; RCV002372816
• dbSNP Id: rs2148128120
• MyVariant Identifiers: chrX:g.153608059G>T (hg19) ; chrX:g.154379699G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379699G>T , CM000685.2:g.154379699G>T	GRCh38
NC_000023.10:g.153608059G>T , CM000685.1:g.153608059G>T	GRCh37
NC_000023.9:g.153261253G>T	NCBI36
NG_008677.1:g.10264G>T , LRG_745:g.10264G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.92G>T	ENSP00000507245.1:p.Arg31Leu
ENST00000682478.1:n.68G>T
ENST00000683576.1:n.68G>T
ENST00000683627.1:c.92G>T	ENSP00000507533.1:p.Arg31Leu
ENST00000684082.1:c.92G>T	ENSP00000508266.1:p.Arg31Leu
ENST00000684633.1:n.64G>T
ENST00000684678.1:c.88G>T	ENSP00000507059.1:p.Val30Leu
ENST00000369842.9:c.92G>T MANE Select	ENSP00000358857.4:p.Arg31Leu
ENST00000369835.3:c.82+133G>T	ENSP00000358850.3:n.82+133G>T
ENST00000369842.8:c.92G>T	ENSP00000358857.4:p.Arg31Leu
ENST00000428228.5:c.63G>T	ENSP00000401081.1:p.Ser21=
ENST00000468294.5:n.52G>T
ENST00000485261.1:n.163+133G>T
ENST00000486738.5:n.236G>T
ENST00000492448.1:n.75G>T
ENST00000494443.5:n.149G>T
NM_000117.2:c.92G>T , LRG_745t1:c.92G>T	NP_000108.1:p.Arg31Leu
XM_024452349.1:c.-117G>T	XP_024308117.1:n.-117G>T
NM_000117.3:c.92G>T MANE Select	NP_000108.1:p.Arg31Leu