Canonical Allele Identifier: CA415257767

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608379G>C (hg19) ; chrX:g.154380019G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380019G>C , CM000685.2:g.154380019G>C	GRCh38
NC_000023.10:g.153608379G>C , CM000685.1:g.153608379G>C	GRCh37
NC_000023.9:g.153261573G>C	NCBI36
NG_008677.1:g.10584G>C , LRG_745:g.10584G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.265G>C	ENSP00000507245.1:p.Gly89Arg
ENST00000682478.1:n.241G>C
ENST00000683576.1:n.241G>C
ENST00000683627.1:c.265G>C	ENSP00000507533.1:p.Gly89Arg
ENST00000684082.1:c.265G>C	ENSP00000508266.1:p.Gly89Arg
ENST00000684633.1:n.237G>C
ENST00000684678.1:c.261G>C	ENSP00000507059.1:n.261G>C
ENST00000369842.9:c.265G>C MANE Select	ENSP00000358857.4:p.Gly89Arg
ENST00000369835.3:c.160G>C	ENSP00000358850.3:p.Gly54Arg
ENST00000369842.8:c.265G>C	ENSP00000358857.4:p.Gly89Arg
ENST00000428228.5:c.*170G>C	ENSP00000401081.1:n.*170G>C
ENST00000468294.5:n.225G>C
ENST00000485261.1:n.241G>C
ENST00000486738.5:n.409G>C
ENST00000492448.1:n.248G>C
ENST00000494443.5:n.322G>C
NM_000117.2:c.265G>C , LRG_745t1:c.265G>C	NP_000108.1:p.Gly89Arg
XM_024452349.1:c.57G>C	XP_024308117.1:p.Arg19Ser
NM_000117.3:c.265G>C MANE Select	NP_000108.1:p.Gly89Arg