Canonical Allele Identifier: CA415258889

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609367C>G (hg19) ; chrX:g.154381007C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381007C>G , CM000685.2:g.154381007C>G	GRCh38
NC_000023.10:g.153609367C>G , CM000685.1:g.153609367C>G	GRCh37
NC_000023.9:g.153262561C>G	NCBI36
NG_008677.1:g.11572C>G , LRG_745:g.11572C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+3C>G	ENSP00000507245.1:n.572+3C>G
ENST00000682478.1:n.762+3C>G
ENST00000683576.1:n.765C>G
ENST00000683627.1:c.575C>G	ENSP00000507533.1:p.Ser192Cys
ENST00000684082.1:c.532C>G	ENSP00000508266.1:n.532C>G
ENST00000684633.1:n.547C>G
ENST00000684678.1:c.568+3C>G	ENSP00000507059.1:n.568+3C>G
ENST00000369842.9:c.575C>G MANE Select	ENSP00000358857.4:p.Ser192Cys
ENST00000369835.3:c.470C>G	ENSP00000358850.3:p.Ser157Cys
ENST00000369842.8:c.575C>G	ENSP00000358857.4:p.Ser192Cys
ENST00000428228.5:c.*480C>G	ENSP00000401081.1:n.*480C>G
ENST00000471965.1:n.364C>G
ENST00000486738.5:n.1012C>G
ENST00000492448.1:n.558C>G
NM_000117.2:c.575C>G , LRG_745t1:c.575C>G	NP_000108.1:p.Ser192Cys
XM_024452349.1:c.581C>G	XP_024308117.1:p.Ser194Cys
NM_000117.3:c.575C>G MANE Select	NP_000108.1:p.Ser192Cys