Canonical Allele Identifier: CA335162

Gene: EMD

Linked Data

• ClinVar Variation Id: 201778
• ClinVar RCV Id: RCV000183447 ; RCV001852356
• dbSNP Id: rs794729016
• MyVariant Identifiers: chrX:g.153607864T>A (hg19) ; chrX:g.154379504T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379504T>A , CM000685.2:g.154379504T>A	GRCh38
NC_000023.10:g.153607864T>A , CM000685.1:g.153607864T>A	GRCh37
NC_000023.9:g.153261058T>A	NCBI36
NG_008677.1:g.10069T>A , LRG_745:g.10069T>A
NG_011506.1:g.143A>T
NG_011506.2:g.135A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.20T>A	ENSP00000507245.1:p.Leu7His
ENST00000683627.1:c.20T>A	ENSP00000507533.1:p.Leu7His
ENST00000684082.1:c.20T>A	ENSP00000508266.1:p.Leu7His
ENST00000684678.1:c.20T>A	ENSP00000507059.1:p.Leu7His
ENST00000369842.9:c.20T>A MANE Select	ENSP00000358857.4:p.Leu7His
ENST00000369835.3:c.20T>A	ENSP00000358850.3:p.Leu7His
ENST00000369842.8:c.20T>A	ENSP00000358857.4:p.Leu7His
ENST00000428228.5:c.20T>A	ENSP00000401081.1:p.Leu7His
ENST00000485261.1:n.101T>A
ENST00000486738.5:n.164T>A
ENST00000494443.5:n.77T>A
NM_000117.2:c.20T>A , LRG_745t1:c.20T>A	NP_000108.1:p.Leu7His
XM_024452349.1:c.-189T>A	XP_024308117.1:n.-189T>A
NM_000117.3:c.20T>A MANE Select	NP_000108.1:p.Leu7His