Canonical Allele Identifier: CA415257280

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608055A>C (hg19) ; chrX:g.154379695A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379695A>C , CM000685.2:g.154379695A>C	GRCh38
NC_000023.10:g.153608055A>C , CM000685.1:g.153608055A>C	GRCh37
NC_000023.9:g.153261249A>C	NCBI36
NG_008677.1:g.10260A>C , LRG_745:g.10260A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.88A>C	ENSP00000507245.1:p.Thr30Pro
ENST00000682478.1:n.64A>C
ENST00000683576.1:n.64A>C
ENST00000683627.1:c.88A>C	ENSP00000507533.1:p.Thr30Pro
ENST00000684082.1:c.88A>C	ENSP00000508266.1:p.Thr30Pro
ENST00000684633.1:n.60A>C
ENST00000684678.1:c.84A>C	ENSP00000507059.1:p.Gln28His
ENST00000369842.9:c.88A>C MANE Select	ENSP00000358857.4:p.Thr30Pro
ENST00000369835.3:c.82+129A>C	ENSP00000358850.3:n.82+129A>C
ENST00000369842.8:c.88A>C	ENSP00000358857.4:p.Thr30Pro
ENST00000428228.5:c.59A>C	ENSP00000401081.1:p.Asn20Thr
ENST00000468294.5:n.48A>C
ENST00000485261.1:n.163+129A>C
ENST00000486738.5:n.232A>C
ENST00000492448.1:n.71A>C
ENST00000494443.5:n.145A>C
NM_000117.2:c.88A>C , LRG_745t1:c.88A>C	NP_000108.1:p.Thr30Pro
XM_024452349.1:c.-121A>C	XP_024308117.1:n.-121A>C
NM_000117.3:c.88A>C MANE Select	NP_000108.1:p.Thr30Pro