Canonical Allele Identifier: CA415257496

Gene: EMD

Linked Data

• gnomAD v4: X-154379759-C-A
• MyVariant Identifiers: chrX:g.153608119C>A (hg19) ; chrX:g.154379759C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379759C>A , CM000685.2:g.154379759C>A	GRCh38
NC_000023.10:g.153608119C>A , CM000685.1:g.153608119C>A	GRCh37
NC_000023.9:g.153261313C>A	NCBI36
NG_008677.1:g.10324C>A , LRG_745:g.10324C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.152C>A	ENSP00000507245.1:p.Pro51His
ENST00000682478.1:n.128C>A
ENST00000683576.1:n.128C>A
ENST00000683627.1:c.152C>A	ENSP00000507533.1:p.Pro51His
ENST00000684082.1:c.152C>A	ENSP00000508266.1:p.Pro51His
ENST00000684633.1:n.124C>A
ENST00000684678.1:c.148C>A	ENSP00000507059.1:p.Pro50Thr
ENST00000369842.9:c.152C>A MANE Select	ENSP00000358857.4:p.Pro51His
ENST00000369835.3:c.83-183C>A	ENSP00000358850.3:n.83-183C>A
ENST00000369842.8:c.152C>A	ENSP00000358857.4:p.Pro51His
ENST00000428228.5:c.*57C>A	ENSP00000401081.1:n.*57C>A
ENST00000468294.5:n.112C>A
ENST00000485261.1:n.164-183C>A
ENST00000486738.5:n.296C>A
ENST00000492448.1:n.135C>A
ENST00000494443.5:n.209C>A
NM_000117.2:c.152C>A , LRG_745t1:c.152C>A	NP_000108.1:p.Pro51His
XM_024452349.1:c.-57C>A	XP_024308117.1:n.-57C>A
NM_000117.3:c.152C>A MANE Select	NP_000108.1:p.Pro51His