Canonical Allele Identifier: CA519277971

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608360T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380000T>C , CM000685.2:g.154380000T>C	GRCh38
NC_000023.10:g.153608360T>C , CM000685.1:g.153608360T>C	GRCh37
NC_000023.9:g.153261554T>C	NCBI36
NG_008677.1:g.10565T>C , LRG_745:g.10565T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.246T>C	ENSP00000507245.1:p.Ala82=
ENST00000682478.1:n.222T>C
ENST00000683576.1:n.222T>C
ENST00000683627.1:c.246T>C	ENSP00000507533.1:p.Ala82=
ENST00000684082.1:c.246T>C	ENSP00000508266.1:p.Ala82=
ENST00000684633.1:n.218T>C
ENST00000684678.1:c.242T>C	ENSP00000507059.1:n.242T>C
ENST00000369842.9:c.246T>C MANE Select	ENSP00000358857.4:p.Ala82=
ENST00000369835.3:c.141T>C	ENSP00000358850.3:p.Ala47=
ENST00000369842.8:c.246T>C	ENSP00000358857.4:p.Ala82=
ENST00000428228.5:c.*151T>C	ENSP00000401081.1:n.*151T>C
ENST00000468294.5:n.206T>C
ENST00000485261.1:n.222T>C
ENST00000486738.5:n.390T>C
ENST00000492448.1:n.229T>C
ENST00000494443.5:n.303T>C
NM_000117.2:c.246T>C , LRG_745t1:c.246T>C	NP_000108.1:p.Ala82=
XM_024452349.1:c.38T>C	XP_024308117.1:p.Leu13Pro
NM_000117.3:c.246T>C MANE Select	NP_000108.1:p.Ala82=