Canonical Allele Identifier: CA415257803

Gene: EMD

Linked Data

• dbSNP Id: rs2067879334
• MyVariant Identifiers: chrX:g.153608603A>G (hg19) ; chrX:g.154380243A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380243A>G , CM000685.2:g.154380243A>G	GRCh38
NC_000023.10:g.153608603A>G , CM000685.1:g.153608603A>G	GRCh37
NC_000023.9:g.153261797A>G	NCBI36
NG_008677.1:g.10808A>G , LRG_745:g.10808A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.275A>G	ENSP00000507245.1:p.Asp92Gly
ENST00000682478.1:n.465A>G
ENST00000683576.1:n.465A>G
ENST00000683627.1:c.275A>G	ENSP00000507533.1:p.Asp92Gly
ENST00000684082.1:c.266-34A>G	ENSP00000508266.1:n.266-34A>G
ENST00000684633.1:n.247A>G
ENST00000684678.1:c.271A>G	ENSP00000507059.1:n.271A>G
ENST00000369842.9:c.275A>G MANE Select	ENSP00000358857.4:p.Asp92Gly
ENST00000369835.3:c.170A>G	ENSP00000358850.3:p.Asp57Gly
ENST00000369842.8:c.275A>G	ENSP00000358857.4:p.Asp92Gly
ENST00000428228.5:c.*180A>G	ENSP00000401081.1:n.*180A>G
ENST00000468294.5:n.235A>G
ENST00000485261.1:n.465A>G
ENST00000486738.5:n.633A>G
ENST00000492448.1:n.258A>G
ENST00000494443.5:n.546A>G
NM_000117.2:c.275A>G , LRG_745t1:c.275A>G	NP_000108.1:p.Asp92Gly
XM_024452349.1:c.281A>G	XP_024308117.1:p.Asp94Gly
NM_000117.3:c.275A>G MANE Select	NP_000108.1:p.Asp92Gly