Canonical Allele Identifier: CA645290592

Gene: EMD

Linked Data

• ClinVar Variation Id: 1914412
• ClinVar RCV Id: RCV002597533
• dbSNP Id: rs1350189520
• gnomAD v2: X-153608166-G-C
• gnomAD v3: X-154379806-G-C
• gnomAD v4: X-154379806-G-C
• MyVariant Identifiers: chrX:g.153608166G>C (hg19) ; chrX:g.154379806G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379806G>C , CM000685.2:g.154379806G>C	GRCh38
NC_000023.10:g.153608166G>C , CM000685.1:g.153608166G>C	GRCh37
NC_000023.9:g.153261360G>C	NCBI36
NG_008677.1:g.10371G>C , LRG_745:g.10371G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.187+12G>C	ENSP00000507245.1:n.187+12G>C
ENST00000682478.1:n.163+12G>C
ENST00000683576.1:n.163+12G>C
ENST00000683627.1:c.187+12G>C	ENSP00000507533.1:n.187+12G>C
ENST00000684082.1:c.187+12G>C	ENSP00000508266.1:n.187+12G>C
ENST00000684633.1:n.159+12G>C
ENST00000684678.1:c.183+12G>C	ENSP00000507059.1:n.183+12G>C
ENST00000369842.9:c.187+12G>C MANE Select	ENSP00000358857.4:n.187+12G>C
ENST00000369835.3:c.83-136G>C	ENSP00000358850.3:n.83-136G>C
ENST00000369842.8:c.187+12G>C	ENSP00000358857.4:n.187+12G>C
ENST00000428228.5:c.*92+12G>C	ENSP00000401081.1:n.*92+12G>C
ENST00000468294.5:n.147+12G>C
ENST00000485261.1:n.164-136G>C
ENST00000486738.5:n.331+12G>C
ENST00000492448.1:n.170+12G>C
ENST00000494443.5:n.244+12G>C
NM_000117.2:c.187+12G>C , LRG_745t1:c.187+12G>C	NP_000108.1:n.187+12G>C
XM_024452349.1:c.-22+12G>C	XP_024308117.1:n.-22+12G>C
NM_000117.3:c.187+12G>C MANE Select	NP_000108.1:n.187+12G>C