Canonical Allele Identifier: CA415257485

Gene: EMD

Linked Data

• gnomAD v4: X-154379752-T-G
• MyVariant Identifiers: chrX:g.153608112T>G (hg19) ; chrX:g.154379752T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379752T>G , CM000685.2:g.154379752T>G	GRCh38
NC_000023.10:g.153608112T>G , CM000685.1:g.153608112T>G	GRCh37
NC_000023.9:g.153261306T>G	NCBI36
NG_008677.1:g.10317T>G , LRG_745:g.10317T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.145T>G	ENSP00000507245.1:p.Ser49Ala
ENST00000682478.1:n.121T>G
ENST00000683576.1:n.121T>G
ENST00000683627.1:c.145T>G	ENSP00000507533.1:p.Ser49Ala
ENST00000684082.1:c.145T>G	ENSP00000508266.1:p.Ser49Ala
ENST00000684633.1:n.117T>G
ENST00000684678.1:c.141T>G	ENSP00000507059.1:p.Ser47=
ENST00000369842.9:c.145T>G MANE Select	ENSP00000358857.4:p.Ser49Ala
ENST00000369835.3:c.82+186T>G	ENSP00000358850.3:n.82+186T>G
ENST00000369842.8:c.145T>G	ENSP00000358857.4:p.Ser49Ala
ENST00000428228.5:c.*50T>G	ENSP00000401081.1:n.*50T>G
ENST00000468294.5:n.105T>G
ENST00000485261.1:n.163+186T>G
ENST00000486738.5:n.289T>G
ENST00000492448.1:n.128T>G
ENST00000494443.5:n.202T>G
NM_000117.2:c.145T>G , LRG_745t1:c.145T>G	NP_000108.1:p.Ser49Ala
XM_024452349.1:c.-64T>G	XP_024308117.1:n.-64T>G
NM_000117.3:c.145T>G MANE Select	NP_000108.1:p.Ser49Ala