Canonical Allele Identifier: CA415258904

Gene: EMD

Linked Data

• dbSNP Id: rs1557182650
• gnomAD v2: X-153609372-T-A
• gnomAD v4: X-154381012-T-A
• MyVariant Identifiers: chrX:g.153609372T>A (hg19) ; chrX:g.154381012T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381012T>A , CM000685.2:g.154381012T>A	GRCh38
NC_000023.10:g.153609372T>A , CM000685.1:g.153609372T>A	GRCh37
NC_000023.9:g.153262566T>A	NCBI36
NG_008677.1:g.11577T>A , LRG_745:g.11577T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+8T>A	ENSP00000507245.1:n.572+8T>A
ENST00000682478.1:n.762+8T>A
ENST00000683576.1:n.770T>A
ENST00000683627.1:c.580T>A	ENSP00000507533.1:p.Ser194Thr
ENST00000684082.1:c.537T>A	ENSP00000508266.1:n.537T>A
ENST00000684633.1:n.552T>A
ENST00000684678.1:c.568+8T>A	ENSP00000507059.1:n.568+8T>A
ENST00000369842.9:c.580T>A MANE Select	ENSP00000358857.4:p.Ser194Thr
ENST00000369835.3:c.475T>A	ENSP00000358850.3:p.Ser159Thr
ENST00000369842.8:c.580T>A	ENSP00000358857.4:p.Ser194Thr
ENST00000428228.5:c.*485T>A	ENSP00000401081.1:n.*485T>A
ENST00000471965.1:n.369T>A
ENST00000486738.5:n.1017T>A
ENST00000492448.1:n.563T>A
NM_000117.2:c.580T>A , LRG_745t1:c.580T>A	NP_000108.1:p.Ser194Thr
XM_024452349.1:c.586T>A	XP_024308117.1:p.Ser196Thr
NM_000117.3:c.580T>A MANE Select	NP_000108.1:p.Ser194Thr