Canonical Allele Identifier: CA415257482

Gene: EMD

Linked Data

• ClinVar Variation Id: 1329350
• ClinVar RCV Id: RCV001799393
• dbSNP Id: rs2148128160
• MyVariant Identifiers: chrX:g.153608110T>G (hg19) ; chrX:g.154379750T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379750T>G , CM000685.2:g.154379750T>G	GRCh38
NC_000023.10:g.153608110T>G , CM000685.1:g.153608110T>G	GRCh37
NC_000023.9:g.153261304T>G	NCBI36
NG_008677.1:g.10315T>G , LRG_745:g.10315T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.143T>G	ENSP00000507245.1:p.Leu48Arg
ENST00000682478.1:n.119T>G
ENST00000683576.1:n.119T>G
ENST00000683627.1:c.143T>G	ENSP00000507533.1:p.Leu48Arg
ENST00000684082.1:c.143T>G	ENSP00000508266.1:p.Leu48Arg
ENST00000684633.1:n.115T>G
ENST00000684678.1:c.139T>G	ENSP00000507059.1:p.Ser47Ala
ENST00000369842.9:c.143T>G MANE Select	ENSP00000358857.4:p.Leu48Arg
ENST00000369835.3:c.82+184T>G	ENSP00000358850.3:n.82+184T>G
ENST00000369842.8:c.143T>G	ENSP00000358857.4:p.Leu48Arg
ENST00000428228.5:c.*48T>G	ENSP00000401081.1:n.*48T>G
ENST00000468294.5:n.103T>G
ENST00000485261.1:n.163+184T>G
ENST00000486738.5:n.287T>G
ENST00000492448.1:n.126T>G
ENST00000494443.5:n.200T>G
NM_000117.2:c.143T>G , LRG_745t1:c.143T>G	NP_000108.1:p.Leu48Arg
XM_024452349.1:c.-66T>G	XP_024308117.1:n.-66T>G
NM_000117.3:c.143T>G MANE Select	NP_000108.1:p.Leu48Arg