Canonical Allele Identifier: CA415257544

Gene: EMD

Linked Data

• ClinVar Variation Id: 1056143
• ClinVar RCV Id: RCV001364926 ; RCV002404869
• dbSNP Id: rs2148128196
• MyVariant Identifiers: chrX:g.153608143A>G (hg19) ; chrX:g.154379783A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379783A>G , CM000685.2:g.154379783A>G	GRCh38
NC_000023.10:g.153608143A>G , CM000685.1:g.153608143A>G	GRCh37
NC_000023.9:g.153261337A>G	NCBI36
NG_008677.1:g.10348A>G , LRG_745:g.10348A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.176A>G	ENSP00000507245.1:p.Tyr59Cys
ENST00000682478.1:n.152A>G
ENST00000683576.1:n.152A>G
ENST00000683627.1:c.176A>G	ENSP00000507533.1:p.Tyr59Cys
ENST00000684082.1:c.176A>G	ENSP00000508266.1:p.Tyr59Cys
ENST00000684633.1:n.148A>G
ENST00000684678.1:c.172A>G	ENSP00000507059.1:p.Ile58Val
ENST00000369842.9:c.176A>G MANE Select	ENSP00000358857.4:p.Tyr59Cys
ENST00000369835.3:c.83-159A>G	ENSP00000358850.3:n.83-159A>G
ENST00000369842.8:c.176A>G	ENSP00000358857.4:p.Tyr59Cys
ENST00000428228.5:c.*81A>G	ENSP00000401081.1:n.*81A>G
ENST00000468294.5:n.136A>G
ENST00000485261.1:n.164-159A>G
ENST00000486738.5:n.320A>G
ENST00000492448.1:n.159A>G
ENST00000494443.5:n.233A>G
NM_000117.2:c.176A>G , LRG_745t1:c.176A>G	NP_000108.1:p.Tyr59Cys
XM_024452349.1:c.-33A>G	XP_024308117.1:n.-33A>G
NM_000117.3:c.176A>G MANE Select	NP_000108.1:p.Tyr59Cys