Canonical Allele Identifier: CA519709987

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609305A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380945A>T , CM000685.2:g.154380945A>T	GRCh38
NC_000023.10:g.153609305A>T , CM000685.1:g.153609305A>T	GRCh37
NC_000023.9:g.153262499A>T	NCBI36
NG_008677.1:g.11510A>T , LRG_745:g.11510A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.513A>T	ENSP00000507245.1:p.Ser171=
ENST00000682478.1:n.703A>T
ENST00000683576.1:n.703A>T
ENST00000683627.1:c.513A>T	ENSP00000507533.1:p.Ser171=
ENST00000684082.1:c.470A>T	ENSP00000508266.1:n.470A>T
ENST00000684633.1:n.485A>T
ENST00000684678.1:c.509A>T	ENSP00000507059.1:n.509A>T
ENST00000369842.9:c.513A>T MANE Select	ENSP00000358857.4:p.Ser171=
ENST00000369835.3:c.408A>T	ENSP00000358850.3:p.Ser136=
ENST00000369842.8:c.513A>T	ENSP00000358857.4:p.Ser171=
ENST00000428228.5:c.*418A>T	ENSP00000401081.1:n.*418A>T
ENST00000471965.1:n.302A>T
ENST00000485261.1:n.782A>T
ENST00000486738.5:n.950A>T
ENST00000492448.1:n.496A>T
NM_000117.2:c.513A>T , LRG_745t1:c.513A>T	NP_000108.1:p.Ser171=
XM_024452349.1:c.519A>T	XP_024308117.1:p.Ser173=
NM_000117.3:c.513A>T MANE Select	NP_000108.1:p.Ser171=