Canonical Allele Identifier: CA415257478

Gene: EMD

Linked Data

• dbSNP Id: rs2148128157
• gnomAD v4: X-154379749-C-G
• MyVariant Identifiers: chrX:g.153608109C>G (hg19) ; chrX:g.154379749C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379749C>G , CM000685.2:g.154379749C>G	GRCh38
NC_000023.10:g.153608109C>G , CM000685.1:g.153608109C>G	GRCh37
NC_000023.9:g.153261303C>G	NCBI36
NG_008677.1:g.10314C>G , LRG_745:g.10314C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.142C>G	ENSP00000507245.1:p.Leu48Val
ENST00000682478.1:n.118C>G
ENST00000683576.1:n.118C>G
ENST00000683627.1:c.142C>G	ENSP00000507533.1:p.Leu48Val
ENST00000684082.1:c.142C>G	ENSP00000508266.1:p.Leu48Val
ENST00000684633.1:n.114C>G
ENST00000684678.1:c.138C>G	ENSP00000507059.1:p.Gly46=
ENST00000369842.9:c.142C>G MANE Select	ENSP00000358857.4:p.Leu48Val
ENST00000369835.3:c.82+183C>G	ENSP00000358850.3:n.82+183C>G
ENST00000369842.8:c.142C>G	ENSP00000358857.4:p.Leu48Val
ENST00000428228.5:c.*47C>G	ENSP00000401081.1:n.*47C>G
ENST00000468294.5:n.102C>G
ENST00000485261.1:n.163+183C>G
ENST00000486738.5:n.286C>G
ENST00000492448.1:n.125C>G
ENST00000494443.5:n.199C>G
NM_000117.2:c.142C>G , LRG_745t1:c.142C>G	NP_000108.1:p.Leu48Val
XM_024452349.1:c.-67C>G	XP_024308117.1:n.-67C>G
NM_000117.3:c.142C>G MANE Select	NP_000108.1:p.Leu48Val