Canonical Allele Identifier: CA10561623

Gene: EMD

Linked Data

• ClinVar Variation Id: 290157
• ClinVar RCV Id: RCV000695175 ; RCV000396796 ; RCV000726441 ; RCV003298348
• dbSNP Id: rs144594695
• ExAC: X:153609258 G / C
• gnomAD v2: X-153609258-G-C
• gnomAD v3: X-154380898-G-C
• gnomAD v4: X-154380898-G-C
• MyVariant Identifiers: chrX:g.153609258G>C (hg19) ; chrX:g.154380898G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380898G>C , CM000685.2:g.154380898G>C	GRCh38
NC_000023.10:g.153609258G>C , CM000685.1:g.153609258G>C	GRCh37
NC_000023.9:g.153262452G>C	NCBI36
NG_008677.1:g.11463G>C , LRG_745:g.11463G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.466G>C	ENSP00000507245.1:p.Gly156Arg
ENST00000682478.1:n.656G>C
ENST00000683576.1:n.656G>C
ENST00000683627.1:c.466G>C	ENSP00000507533.1:p.Gly156Arg
ENST00000684082.1:c.423G>C	ENSP00000508266.1:n.423G>C
ENST00000684633.1:n.438G>C
ENST00000684678.1:c.462G>C	ENSP00000507059.1:n.462G>C
ENST00000369842.9:c.466G>C MANE Select	ENSP00000358857.4:p.Gly156Arg
ENST00000369835.3:c.361G>C	ENSP00000358850.3:p.Gly121Arg
ENST00000369842.8:c.466G>C	ENSP00000358857.4:p.Gly156Arg
ENST00000428228.5:c.*371G>C	ENSP00000401081.1:n.*371G>C
ENST00000471965.1:n.255G>C
ENST00000485261.1:n.735G>C
ENST00000486738.5:n.903G>C
ENST00000492448.1:n.449G>C
NM_000117.2:c.466G>C , LRG_745t1:c.466G>C	NP_000108.1:p.Gly156Arg
XM_024452349.1:c.472G>C	XP_024308117.1:p.Gly158Arg
NM_000117.3:c.466G>C MANE Select	NP_000108.1:p.Gly156Arg