Canonical Allele Identifier: CA10606711

Gene: EMD

Linked Data

• ClinVar Variation Id: 290259
• ClinVar RCV Id: RCV000498046 ; RCV002518125
• dbSNP Id: rs886044901
• MyVariant Identifiers: chrX:g.153609304C>A (hg19) ; chrX:g.154380944C>A (hg38)
• PubMed: PMID:10874323

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380944C>A , CM000685.2:g.154380944C>A	GRCh38
NC_000023.10:g.153609304C>A , CM000685.1:g.153609304C>A	GRCh37
NC_000023.9:g.153262498C>A	NCBI36
NG_008677.1:g.11509C>A , LRG_745:g.11509C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.512C>A	ENSP00000507245.1:p.Ser171Ter
ENST00000682478.1:n.702C>A
ENST00000683576.1:n.702C>A
ENST00000683627.1:c.512C>A	ENSP00000507533.1:p.Ser171Ter
ENST00000684082.1:c.469C>A	ENSP00000508266.1:n.469C>A
ENST00000684633.1:n.484C>A
ENST00000684678.1:c.508C>A	ENSP00000507059.1:n.508C>A
ENST00000369842.9:c.512C>A MANE Select	ENSP00000358857.4:p.Ser171Ter
ENST00000369835.3:c.407C>A	ENSP00000358850.3:p.Ser136Ter
ENST00000369842.8:c.512C>A	ENSP00000358857.4:p.Ser171Ter
ENST00000428228.5:c.*417C>A	ENSP00000401081.1:n.*417C>A
ENST00000471965.1:n.301C>A
ENST00000485261.1:n.781C>A
ENST00000486738.5:n.949C>A
ENST00000492448.1:n.495C>A
NM_000117.2:c.512C>A , LRG_745t1:c.512C>A	NP_000108.1:p.Ser171Ter
XM_024452349.1:c.518C>A	XP_024308117.1:p.Ser173Ter
NM_000117.3:c.512C>A MANE Select	NP_000108.1:p.Ser171Ter