Canonical Allele Identifier: CA415257488

Gene: EMD

Linked Data

• gnomAD v4: X-154379753-C-T
• MyVariant Identifiers: chrX:g.153608113C>T (hg19) ; chrX:g.154379753C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379753C>T , CM000685.2:g.154379753C>T	GRCh38
NC_000023.10:g.153608113C>T , CM000685.1:g.153608113C>T	GRCh37
NC_000023.9:g.153261307C>T	NCBI36
NG_008677.1:g.10318C>T , LRG_745:g.10318C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.146C>T	ENSP00000507245.1:p.Ser49Leu
ENST00000682478.1:n.122C>T
ENST00000683576.1:n.122C>T
ENST00000683627.1:c.146C>T	ENSP00000507533.1:p.Ser49Leu
ENST00000684082.1:c.146C>T	ENSP00000508266.1:p.Ser49Leu
ENST00000684633.1:n.118C>T
ENST00000684678.1:c.142C>T	ENSP00000507059.1:p.Arg48Cys
ENST00000369842.9:c.146C>T MANE Select	ENSP00000358857.4:p.Ser49Leu
ENST00000369835.3:c.82+187C>T	ENSP00000358850.3:n.82+187C>T
ENST00000369842.8:c.146C>T	ENSP00000358857.4:p.Ser49Leu
ENST00000428228.5:c.*51C>T	ENSP00000401081.1:n.*51C>T
ENST00000468294.5:n.106C>T
ENST00000485261.1:n.163+187C>T
ENST00000486738.5:n.290C>T
ENST00000492448.1:n.129C>T
ENST00000494443.5:n.203C>T
NM_000117.2:c.146C>T , LRG_745t1:c.146C>T	NP_000108.1:p.Ser49Leu
XM_024452349.1:c.-63C>T	XP_024308117.1:n.-63C>T
NM_000117.3:c.146C>T MANE Select	NP_000108.1:p.Ser49Leu