Canonical Allele Identifier: CA10561553

Gene: EMD

Linked Data

• dbSNP Id: rs782178894
• ExAC: X:153608378 G / A
• gnomAD v2: X-153608378-G-A
• MyVariant Identifiers: chrX:g.153608378G>A (hg19) ; chrX:g.154380018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380018G>A , CM000685.2:g.154380018G>A	GRCh38
NC_000023.10:g.153608378G>A , CM000685.1:g.153608378G>A	GRCh37
NC_000023.9:g.153261572G>A	NCBI36
NG_008677.1:g.10583G>A , LRG_745:g.10583G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.264G>A	ENSP00000507245.1:p.Lys88=
ENST00000682478.1:n.240G>A
ENST00000683576.1:n.240G>A
ENST00000683627.1:c.264G>A	ENSP00000507533.1:p.Lys88=
ENST00000684082.1:c.264G>A	ENSP00000508266.1:p.Lys88=
ENST00000684633.1:n.236G>A
ENST00000684678.1:c.260G>A	ENSP00000507059.1:n.260G>A
ENST00000369842.9:c.264G>A MANE Select	ENSP00000358857.4:p.Lys88=
ENST00000369835.3:c.159G>A	ENSP00000358850.3:p.Lys53=
ENST00000369842.8:c.264G>A	ENSP00000358857.4:p.Lys88=
ENST00000428228.5:c.*169G>A	ENSP00000401081.1:n.*169G>A
ENST00000468294.5:n.224G>A
ENST00000485261.1:n.240G>A
ENST00000486738.5:n.408G>A
ENST00000492448.1:n.247G>A
ENST00000494443.5:n.321G>A
NM_000117.2:c.264G>A , LRG_745t1:c.264G>A	NP_000108.1:p.Lys88=
XM_024452349.1:c.56G>A	XP_024308117.1:p.Arg19Lys
NM_000117.3:c.264G>A MANE Select	NP_000108.1:p.Lys88=