Canonical Allele Identifier: CA176030

Gene: EMD

Linked Data

• ClinVar Variation Id: 163405
• ClinVar RCV Id: RCV000150649 ; RCV001416485
• dbSNP Id: rs727503037
• ExAC: X:153609503 C / T
• gnomAD v4: X-154381143-C-T
• MyVariant Identifiers: chrX:g.153609503C>T (hg19) ; chrX:g.154381143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381143C>T , CM000685.2:g.154381143C>T	GRCh38
NC_000023.10:g.153609503C>T , CM000685.1:g.153609503C>T	GRCh37
NC_000023.9:g.153262697C>T	NCBI36
NG_008677.1:g.11708C>T , LRG_745:g.11708C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+139C>T	ENSP00000507245.1:n.572+139C>T
ENST00000682478.1:n.762+139C>T
ENST00000683576.1:n.901C>T
ENST00000683627.1:c.711C>T	ENSP00000507533.1:p.Ile237=
ENST00000684082.1:c.668C>T	ENSP00000508266.1:n.668C>T
ENST00000684633.1:n.683C>T
ENST00000684678.1:c.568+139C>T	ENSP00000507059.1:n.568+139C>T
ENST00000369842.9:c.711C>T MANE Select	ENSP00000358857.4:p.Ile237=
ENST00000369835.3:c.606C>T	ENSP00000358850.3:p.Ile202=
ENST00000369842.8:c.711C>T	ENSP00000358857.4:p.Ile237=
ENST00000428228.5:c.*616C>T	ENSP00000401081.1:n.*616C>T
ENST00000471965.1:n.500C>T
ENST00000486738.5:n.1148C>T
ENST00000492448.1:n.694C>T
NM_000117.2:c.711C>T , LRG_745t1:c.711C>T	NP_000108.1:p.Ile237=
XM_024452349.1:c.717C>T	XP_024308117.1:p.Ile239=
NM_000117.3:c.711C>T MANE Select	NP_000108.1:p.Ile237=