Canonical Allele Identifier: CA415259082

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609436C>G (hg19) ; chrX:g.154381076C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381076C>G , CM000685.2:g.154381076C>G	GRCh38
NC_000023.10:g.153609436C>G , CM000685.1:g.153609436C>G	GRCh37
NC_000023.9:g.153262630C>G	NCBI36
NG_008677.1:g.11641C>G , LRG_745:g.11641C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.572+72C>G	ENSP00000507245.1:n.572+72C>G
ENST00000682478.1:n.762+72C>G
ENST00000683576.1:n.834C>G
ENST00000683627.1:c.644C>G	ENSP00000507533.1:p.Ala215Gly
ENST00000684082.1:c.601C>G	ENSP00000508266.1:n.601C>G
ENST00000684633.1:n.616C>G
ENST00000684678.1:c.568+72C>G	ENSP00000507059.1:n.568+72C>G
ENST00000369842.9:c.644C>G MANE Select	ENSP00000358857.4:p.Ala215Gly
ENST00000369835.3:c.539C>G	ENSP00000358850.3:p.Ala180Gly
ENST00000369842.8:c.644C>G	ENSP00000358857.4:p.Ala215Gly
ENST00000428228.5:c.*549C>G	ENSP00000401081.1:n.*549C>G
ENST00000471965.1:n.433C>G
ENST00000486738.5:n.1081C>G
ENST00000492448.1:n.627C>G
NM_000117.2:c.644C>G , LRG_745t1:c.644C>G	NP_000108.1:p.Ala215Gly
XM_024452349.1:c.650C>G	XP_024308117.1:p.Ala217Gly
NM_000117.3:c.644C>G MANE Select	NP_000108.1:p.Ala215Gly