Canonical Allele Identifier: CA519709722

Gene: EMD

Linked Data

• gnomAD v4: X-154380767-T-C
• MyVariant Identifiers: chrX:g.153609127T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380767T>C , CM000685.2:g.154380767T>C	GRCh38
NC_000023.10:g.153609127T>C , CM000685.1:g.153609127T>C	GRCh37
NC_000023.9:g.153262321T>C	NCBI36
NG_008677.1:g.11332T>C , LRG_745:g.11332T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.414T>C	ENSP00000507245.1:p.Asp138=
ENST00000682478.1:n.604T>C
ENST00000683576.1:n.604T>C
ENST00000683627.1:c.414T>C	ENSP00000507533.1:p.Asp138=
ENST00000684082.1:c.371T>C	ENSP00000508266.1:n.371T>C
ENST00000684633.1:n.386T>C
ENST00000684678.1:c.410T>C	ENSP00000507059.1:n.410T>C
ENST00000369842.9:c.414T>C MANE Select	ENSP00000358857.4:p.Asp138=
ENST00000369835.3:c.309T>C	ENSP00000358850.3:p.Asp103=
ENST00000369842.8:c.414T>C	ENSP00000358857.4:p.Asp138=
ENST00000428228.5:c.*319T>C	ENSP00000401081.1:n.*319T>C
ENST00000468294.5:n.374T>C
ENST00000471965.1:n.203T>C
ENST00000485261.1:n.604T>C
ENST00000486738.5:n.772T>C
ENST00000492448.1:n.397T>C
NM_000117.2:c.414T>C , LRG_745t1:c.414T>C	NP_000108.1:p.Asp138=
XM_024452349.1:c.420T>C	XP_024308117.1:p.Asp140=
NM_000117.3:c.414T>C MANE Select	NP_000108.1:p.Asp138=