Canonical Allele Identifier: CA415257590

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608305T>G (hg19) ; chrX:g.154379945T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379945T>G , CM000685.2:g.154379945T>G	GRCh38
NC_000023.10:g.153608305T>G , CM000685.1:g.153608305T>G	GRCh37
NC_000023.9:g.153261499T>G	NCBI36
NG_008677.1:g.10510T>G , LRG_745:g.10510T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.191T>G	ENSP00000507245.1:p.Leu64Trp
ENST00000682478.1:n.167T>G
ENST00000683576.1:n.167T>G
ENST00000683627.1:c.191T>G	ENSP00000507533.1:p.Leu64Trp
ENST00000684082.1:c.191T>G	ENSP00000508266.1:p.Leu64Trp
ENST00000684633.1:n.163T>G
ENST00000684678.1:c.187T>G	ENSP00000507059.1:p.Ter63Gly
ENST00000369842.9:c.191T>G MANE Select	ENSP00000358857.4:p.Leu64Trp
ENST00000369835.3:c.86T>G	ENSP00000358850.3:p.Leu29Trp
ENST00000369842.8:c.191T>G	ENSP00000358857.4:p.Leu64Trp
ENST00000428228.5:c.*96T>G	ENSP00000401081.1:n.*96T>G
ENST00000468294.5:n.151T>G
ENST00000485261.1:n.167T>G
ENST00000486738.5:n.335T>G
ENST00000492448.1:n.174T>G
ENST00000494443.5:n.248T>G
NM_000117.2:c.191T>G , LRG_745t1:c.191T>G	NP_000108.1:p.Leu64Trp
XM_024452349.1:c.-18T>G	XP_024308117.1:n.-18T>G
NM_000117.3:c.191T>G MANE Select	NP_000108.1:p.Leu64Trp