Canonical Allele Identifier: CA415258602

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609291T>G (hg19) ; chrX:g.154380931T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380931T>G , CM000685.2:g.154380931T>G	GRCh38
NC_000023.10:g.153609291T>G , CM000685.1:g.153609291T>G	GRCh37
NC_000023.9:g.153262485T>G	NCBI36
NG_008677.1:g.11496T>G , LRG_745:g.11496T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.499T>G	ENSP00000507245.1:p.Tyr167Asp
ENST00000682478.1:n.689T>G
ENST00000683576.1:n.689T>G
ENST00000683627.1:c.499T>G	ENSP00000507533.1:p.Tyr167Asp
ENST00000684082.1:c.456T>G	ENSP00000508266.1:n.456T>G
ENST00000684633.1:n.471T>G
ENST00000684678.1:c.495T>G	ENSP00000507059.1:n.495T>G
ENST00000369842.9:c.499T>G MANE Select	ENSP00000358857.4:p.Tyr167Asp
ENST00000369835.3:c.394T>G	ENSP00000358850.3:p.Tyr132Asp
ENST00000369842.8:c.499T>G	ENSP00000358857.4:p.Tyr167Asp
ENST00000428228.5:c.*404T>G	ENSP00000401081.1:n.*404T>G
ENST00000471965.1:n.288T>G
ENST00000485261.1:n.768T>G
ENST00000486738.5:n.936T>G
ENST00000492448.1:n.482T>G
NM_000117.2:c.499T>G , LRG_745t1:c.499T>G	NP_000108.1:p.Tyr167Asp
XM_024452349.1:c.505T>G	XP_024308117.1:p.Tyr169Asp
NM_000117.3:c.499T>G MANE Select	NP_000108.1:p.Tyr167Asp