Canonical Allele Identifier: CA415257773

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608381T>C (hg19) ; chrX:g.154380021T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380021T>C , CM000685.2:g.154380021T>C	GRCh38
NC_000023.10:g.153608381T>C , CM000685.1:g.153608381T>C	GRCh37
NC_000023.9:g.153261575T>C	NCBI36
NG_008677.1:g.10586T>C , LRG_745:g.10586T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265+2T>C	ENSP00000507245.1:n.265+2T>C
ENST00000682478.1:n.243T>C
ENST00000683576.1:n.243T>C
ENST00000683627.1:c.265+2T>C	ENSP00000507533.1:n.265+2T>C
ENST00000684082.1:c.265+2T>C	ENSP00000508266.1:n.265+2T>C
ENST00000684633.1:n.237+2T>C
ENST00000684678.1:c.261+2T>C	ENSP00000507059.1:n.261+2T>C
ENST00000369842.9:c.265+2T>C MANE Select	ENSP00000358857.4:n.265+2T>C
ENST00000369835.3:c.160+2T>C	ENSP00000358850.3:n.160+2T>C
ENST00000369842.8:c.265+2T>C	ENSP00000358857.4:n.265+2T>C
ENST00000428228.5:c.*170+2T>C	ENSP00000401081.1:n.*170+2T>C
ENST00000468294.5:n.225+2T>C
ENST00000485261.1:n.243T>C
ENST00000486738.5:n.411T>C
ENST00000492448.1:n.248+2T>C
ENST00000494443.5:n.324T>C
NM_000117.2:c.265+2T>C , LRG_745t1:c.265+2T>C	NP_000108.1:n.265+2T>C
XM_024452349.1:c.59T>C	XP_024308117.1:p.Val20Ala
NM_000117.3:c.265+2T>C MANE Select	NP_000108.1:n.265+2T>C