Canonical Allele Identifier: CA415258761

Gene: EMD

Linked Data

• dbSNP Id: rs1569552104
• MyVariant Identifiers: chrX:g.153609334A>T (hg19) ; chrX:g.154380974A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380974A>T , CM000685.2:g.154380974A>T	GRCh38
NC_000023.10:g.153609334A>T , CM000685.1:g.153609334A>T	GRCh37
NC_000023.9:g.153262528A>T	NCBI36
NG_008677.1:g.11539A>T , LRG_745:g.11539A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.542A>T	ENSP00000507245.1:p.Tyr181Phe
ENST00000682478.1:n.732A>T
ENST00000683576.1:n.732A>T
ENST00000683627.1:c.542A>T	ENSP00000507533.1:p.Tyr181Phe
ENST00000684082.1:c.499A>T	ENSP00000508266.1:n.499A>T
ENST00000684633.1:n.514A>T
ENST00000684678.1:c.538A>T	ENSP00000507059.1:n.538A>T
ENST00000369842.9:c.542A>T MANE Select	ENSP00000358857.4:p.Tyr181Phe
ENST00000369835.3:c.437A>T	ENSP00000358850.3:p.Tyr146Phe
ENST00000369842.8:c.542A>T	ENSP00000358857.4:p.Tyr181Phe
ENST00000428228.5:c.*447A>T	ENSP00000401081.1:n.*447A>T
ENST00000471965.1:n.331A>T
ENST00000486738.5:n.979A>T
ENST00000492448.1:n.525A>T
NM_000117.2:c.542A>T , LRG_745t1:c.542A>T	NP_000108.1:p.Tyr181Phe
XM_024452349.1:c.548A>T	XP_024308117.1:p.Tyr183Phe
NM_000117.3:c.542A>T MANE Select	NP_000108.1:p.Tyr181Phe