Canonical Allele Identifier: CA16608346

Gene: EMD

Linked Data

• ClinVar Variation Id: 382185
• ClinVar RCV Id: RCV000421883
• dbSNP Id: rs958112509
• gnomAD v2: X-153607821-C-T
• gnomAD v3: X-154379461-C-T
• gnomAD v4: X-154379461-C-T
• MyVariant Identifiers: chrX:g.153607821C>T (hg19) ; chrX:g.154379461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379461C>T , CM000685.2:g.154379461C>T	GRCh38
NC_000023.10:g.153607821C>T , CM000685.1:g.153607821C>T	GRCh37
NC_000023.9:g.153261015C>T	NCBI36
NG_008677.1:g.10026C>T , LRG_745:g.10026C>T
NG_011506.1:g.186G>A
NG_011506.2:g.178G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.-24C>T	ENSP00000507245.1:n.-24C>T
ENST00000369842.9:c.-24C>T MANE Select	ENSP00000358857.4:n.-24C>T
ENST00000369835.3:c.-24C>T	ENSP00000358850.3:n.-24C>T
ENST00000369842.8:c.-24C>T	ENSP00000358857.4:n.-24C>T
ENST00000428228.5:c.-24C>T	ENSP00000401081.1:n.-24C>T
ENST00000485261.1:n.58C>T
ENST00000486738.5:n.121C>T
ENST00000494443.5:n.34C>T
NM_000117.2:c.-24C>T , LRG_745t1:c.-24C>T	NP_000108.1:n.-24C>T
XM_024452349.1:c.-232C>T	XP_024308117.1:n.-232C>T
NM_000117.3:c.-24C>T MANE Select	NP_000108.1:n.-24C>T