Canonical Allele Identifier: CA415258427

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609249C>G (hg19) ; chrX:g.154380889C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380889C>G , CM000685.2:g.154380889C>G	GRCh38
NC_000023.10:g.153609249C>G , CM000685.1:g.153609249C>G	GRCh37
NC_000023.9:g.153262443C>G	NCBI36
NG_008677.1:g.11454C>G , LRG_745:g.11454C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.457C>G	ENSP00000507245.1:p.Pro153Ala
ENST00000682478.1:n.647C>G
ENST00000683576.1:n.647C>G
ENST00000683627.1:c.457C>G	ENSP00000507533.1:p.Pro153Ala
ENST00000684082.1:c.414C>G	ENSP00000508266.1:n.414C>G
ENST00000684633.1:n.429C>G
ENST00000684678.1:c.453C>G	ENSP00000507059.1:n.453C>G
ENST00000369842.9:c.457C>G MANE Select	ENSP00000358857.4:p.Pro153Ala
ENST00000369835.3:c.352C>G	ENSP00000358850.3:p.Pro118Ala
ENST00000369842.8:c.457C>G	ENSP00000358857.4:p.Pro153Ala
ENST00000428228.5:c.*362C>G	ENSP00000401081.1:n.*362C>G
ENST00000468294.5:n.496C>G
ENST00000471965.1:n.246C>G
ENST00000485261.1:n.726C>G
ENST00000486738.5:n.894C>G
ENST00000492448.1:n.440C>G
NM_000117.2:c.457C>G , LRG_745t1:c.457C>G	NP_000108.1:p.Pro153Ala
XM_024452349.1:c.463C>G	XP_024308117.1:p.Pro155Ala
NM_000117.3:c.457C>G MANE Select	NP_000108.1:p.Pro153Ala