Canonical Allele Identifier: CA415258191

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609125G>C (hg19) ; chrX:g.154380765G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380765G>C , CM000685.2:g.154380765G>C	GRCh38
NC_000023.10:g.153609125G>C , CM000685.1:g.153609125G>C	GRCh37
NC_000023.9:g.153262319G>C	NCBI36
NG_008677.1:g.11330G>C , LRG_745:g.11330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.412G>C	ENSP00000507245.1:p.Asp138His
ENST00000682478.1:n.602G>C
ENST00000683576.1:n.602G>C
ENST00000683627.1:c.412G>C	ENSP00000507533.1:p.Asp138His
ENST00000684082.1:c.369G>C	ENSP00000508266.1:n.369G>C
ENST00000684633.1:n.384G>C
ENST00000684678.1:c.408G>C	ENSP00000507059.1:n.408G>C
ENST00000369842.9:c.412G>C MANE Select	ENSP00000358857.4:p.Asp138His
ENST00000369835.3:c.307G>C	ENSP00000358850.3:p.Asp103His
ENST00000369842.8:c.412G>C	ENSP00000358857.4:p.Asp138His
ENST00000428228.5:c.*317G>C	ENSP00000401081.1:n.*317G>C
ENST00000468294.5:n.372G>C
ENST00000471965.1:n.201G>C
ENST00000485261.1:n.602G>C
ENST00000486738.5:n.770G>C
ENST00000492448.1:n.395G>C
NM_000117.2:c.412G>C , LRG_745t1:c.412G>C	NP_000108.1:p.Asp138His
XM_024452349.1:c.418G>C	XP_024308117.1:p.Asp140His
NM_000117.3:c.412G>C MANE Select	NP_000108.1:p.Asp138His