Canonical Allele Identifier: CA415257633

Gene: EMD

Linked Data

• gnomAD v4: X-154379965-G-A
• MyVariant Identifiers: chrX:g.153608325G>A (hg19) ; chrX:g.154379965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379965G>A , CM000685.2:g.154379965G>A	GRCh38
NC_000023.10:g.153608325G>A , CM000685.1:g.153608325G>A	GRCh37
NC_000023.9:g.153261519G>A	NCBI36
NG_008677.1:g.10530G>A , LRG_745:g.10530G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.211G>A	ENSP00000507245.1:p.Ala71Thr
ENST00000682478.1:n.187G>A
ENST00000683576.1:n.187G>A
ENST00000683627.1:c.211G>A	ENSP00000507533.1:p.Ala71Thr
ENST00000684082.1:c.211G>A	ENSP00000508266.1:p.Ala71Thr
ENST00000684633.1:n.183G>A
ENST00000684678.1:c.207G>A	ENSP00000507059.1:n.207G>A
ENST00000369842.9:c.211G>A MANE Select	ENSP00000358857.4:p.Ala71Thr
ENST00000369835.3:c.106G>A	ENSP00000358850.3:p.Ala36Thr
ENST00000369842.8:c.211G>A	ENSP00000358857.4:p.Ala71Thr
ENST00000428228.5:c.*116G>A	ENSP00000401081.1:n.*116G>A
ENST00000468294.5:n.171G>A
ENST00000485261.1:n.187G>A
ENST00000486738.5:n.355G>A
ENST00000492448.1:n.194G>A
ENST00000494443.5:n.268G>A
NM_000117.2:c.211G>A , LRG_745t1:c.211G>A	NP_000108.1:p.Ala71Thr
XM_024452349.1:c.3G>A	XP_024308117.1:p.Met1Ile
NM_000117.3:c.211G>A MANE Select	NP_000108.1:p.Ala71Thr