Canonical Allele Identifier: CA519277950

Gene: EMD

Linked Data

• gnomAD v4: X-154379964-T-C
• MyVariant Identifiers: chrX:g.153608324T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379964T>C , CM000685.2:g.154379964T>C	GRCh38
NC_000023.10:g.153608324T>C , CM000685.1:g.153608324T>C	GRCh37
NC_000023.9:g.153261518T>C	NCBI36
NG_008677.1:g.10529T>C , LRG_745:g.10529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.210T>C	ENSP00000507245.1:p.Asp70=
ENST00000682478.1:n.186T>C
ENST00000683576.1:n.186T>C
ENST00000683627.1:c.210T>C	ENSP00000507533.1:p.Asp70=
ENST00000684082.1:c.210T>C	ENSP00000508266.1:p.Asp70=
ENST00000684633.1:n.182T>C
ENST00000684678.1:c.206T>C	ENSP00000507059.1:n.206T>C
ENST00000369842.9:c.210T>C MANE Select	ENSP00000358857.4:p.Asp70=
ENST00000369835.3:c.105T>C	ENSP00000358850.3:p.Asp35=
ENST00000369842.8:c.210T>C	ENSP00000358857.4:p.Asp70=
ENST00000428228.5:c.*115T>C	ENSP00000401081.1:n.*115T>C
ENST00000468294.5:n.170T>C
ENST00000485261.1:n.186T>C
ENST00000486738.5:n.354T>C
ENST00000492448.1:n.193T>C
ENST00000494443.5:n.267T>C
NM_000117.2:c.210T>C , LRG_745t1:c.210T>C	NP_000108.1:p.Asp70=
XM_024452349.1:c.2T>C	XP_024308117.1:p.Met1Thr
NM_000117.3:c.210T>C MANE Select	NP_000108.1:p.Asp70=