Canonical Allele Identifier: CA415258208

Gene: EMD

Linked Data

• gnomAD v4: X-154380769-T-A
• MyVariant Identifiers: chrX:g.153609129T>A (hg19) ; chrX:g.154380769T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380769T>A , CM000685.2:g.154380769T>A	GRCh38
NC_000023.10:g.153609129T>A , CM000685.1:g.153609129T>A	GRCh37
NC_000023.9:g.153262323T>A	NCBI36
NG_008677.1:g.11334T>A , LRG_745:g.11334T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.416T>A	ENSP00000507245.1:p.Leu139His
ENST00000682478.1:n.606T>A
ENST00000683576.1:n.606T>A
ENST00000683627.1:c.416T>A	ENSP00000507533.1:p.Leu139His
ENST00000684082.1:c.373T>A	ENSP00000508266.1:n.373T>A
ENST00000684633.1:n.388T>A
ENST00000684678.1:c.412T>A	ENSP00000507059.1:n.412T>A
ENST00000369842.9:c.416T>A MANE Select	ENSP00000358857.4:p.Leu139His
ENST00000369835.3:c.311T>A	ENSP00000358850.3:p.Leu104His
ENST00000369842.8:c.416T>A	ENSP00000358857.4:p.Leu139His
ENST00000428228.5:c.*321T>A	ENSP00000401081.1:n.*321T>A
ENST00000468294.5:n.376T>A
ENST00000471965.1:n.205T>A
ENST00000485261.1:n.606T>A
ENST00000486738.5:n.774T>A
ENST00000492448.1:n.399T>A
NM_000117.2:c.416T>A , LRG_745t1:c.416T>A	NP_000108.1:p.Leu139His
XM_024452349.1:c.422T>A	XP_024308117.1:p.Leu141His
NM_000117.3:c.416T>A MANE Select	NP_000108.1:p.Leu139His