Canonical Allele Identifier: CA415257764

Gene: EMD

Linked Data

• ClinVar Variation Id: 1794316
• ClinVar RCV Id: RCV002453058 ; RCV003150568
• dbSNP Id: rs782178894
• gnomAD v2: X-153608378-G-C
• gnomAD v3: X-154380018-G-C
• gnomAD v4: X-154380018-G-C
• MyVariant Identifiers: chrX:g.153608378G>C (hg19) ; chrX:g.154380018G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.264G>C	ENSP00000507245.1:p.Lys88Asn
ENST00000682478.1:n.240G>C
ENST00000683576.1:n.240G>C
ENST00000683627.1:c.264G>C	ENSP00000507533.1:p.Lys88Asn
ENST00000684082.1:c.264G>C	ENSP00000508266.1:p.Lys88Asn
ENST00000684633.1:n.236G>C
ENST00000684678.1:c.260G>C	ENSP00000507059.1:n.260G>C
ENST00000369842.9:c.264G>C MANE Select	ENSP00000358857.4:p.Lys88Asn
ENST00000369835.3:c.159G>C	ENSP00000358850.3:p.Lys53Asn
ENST00000369842.8:c.264G>C	ENSP00000358857.4:p.Lys88Asn
ENST00000428228.5:c.*169G>C	ENSP00000401081.1:n.*169G>C
ENST00000468294.5:n.224G>C
ENST00000485261.1:n.240G>C
ENST00000486738.5:n.408G>C
ENST00000492448.1:n.247G>C
ENST00000494443.5:n.321G>C
NM_000117.2:c.264G>C , LRG_745t1:c.264G>C	NP_000108.1:p.Lys88Asn
XM_024452349.1:c.56G>C	XP_024308117.1:p.Arg19Thr
NM_000117.3:c.264G>C MANE Select	NP_000108.1:p.Lys88Asn