Canonical Allele Identifier: CA10561490

Gene: EMD

Linked Data

• dbSNP Id: rs781955842
• ExAC: X:153607804 C / T
• gnomAD v2: X-153607804-C-T
• gnomAD v4: X-154379444-C-T
• MyVariant Identifiers: chrX:g.153607804C>T (hg19) ; chrX:g.154379444C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379444C>T , CM000685.2:g.154379444C>T	GRCh38
NC_000023.10:g.153607804C>T , CM000685.1:g.153607804C>T	GRCh37
NC_000023.9:g.153260998C>T	NCBI36
NG_008677.1:g.10009C>T , LRG_745:g.10009C>T
NG_011506.1:g.203G>A
NG_011506.2:g.195G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.-41C>T	ENSP00000507245.1:n.-41C>T
ENST00000369842.9:c.-41C>T MANE Select	ENSP00000358857.4:n.-41C>T
ENST00000369835.3:c.-41C>T	ENSP00000358850.3:n.-41C>T
ENST00000369842.8:c.-41C>T	ENSP00000358857.4:n.-41C>T
ENST00000428228.5:c.-41C>T	ENSP00000401081.1:n.-41C>T
ENST00000485261.1:n.41C>T
ENST00000486738.5:n.104C>T
ENST00000494443.5:n.17C>T
NM_000117.2:c.-41C>T , LRG_745t1:c.-41C>T	NP_000108.1:n.-41C>T
XM_024452349.1:c.-249C>T	XP_024308117.1:n.-249C>T
NM_000117.3:c.-41C>T MANE Select	NP_000108.1:n.-41C>T