Canonical Allele Identifier: CA519277979

Gene: EMD

Linked Data

• ClinVar Variation Id: 1145217
• ClinVar RCV Id: RCV001483992
• dbSNP Id: rs1303189631
• gnomAD v4: X-154380009-C-T
• MyVariant Identifiers: chrX:g.153608369C>T (hg19) ; chrX:g.154380009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380009C>T , CM000685.2:g.154380009C>T	GRCh38
NC_000023.10:g.153608369C>T , CM000685.1:g.153608369C>T	GRCh37
NC_000023.9:g.153261563C>T	NCBI36
NG_008677.1:g.10574C>T , LRG_745:g.10574C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.255C>T	ENSP00000507245.1:p.Tyr85=
ENST00000682478.1:n.231C>T
ENST00000683576.1:n.231C>T
ENST00000683627.1:c.255C>T	ENSP00000507533.1:p.Tyr85=
ENST00000684082.1:c.255C>T	ENSP00000508266.1:p.Tyr85=
ENST00000684633.1:n.227C>T
ENST00000684678.1:c.251C>T	ENSP00000507059.1:n.251C>T
ENST00000369842.9:c.255C>T MANE Select	ENSP00000358857.4:p.Tyr85=
ENST00000369835.3:c.150C>T	ENSP00000358850.3:p.Tyr50=
ENST00000369842.8:c.255C>T	ENSP00000358857.4:p.Tyr85=
ENST00000428228.5:c.*160C>T	ENSP00000401081.1:n.*160C>T
ENST00000468294.5:n.215C>T
ENST00000485261.1:n.231C>T
ENST00000486738.5:n.399C>T
ENST00000492448.1:n.238C>T
ENST00000494443.5:n.312C>T
NM_000117.2:c.255C>T , LRG_745t1:c.255C>T	NP_000108.1:p.Tyr85=
XM_024452349.1:c.47C>T	XP_024308117.1:p.Thr16Ile
NM_000117.3:c.255C>T MANE Select	NP_000108.1:p.Tyr85=