Canonical Allele Identifier: CA415259133

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609451A>C (hg19) ; chrX:g.154381091A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381091A>C , CM000685.2:g.154381091A>C	GRCh38
NC_000023.10:g.153609451A>C , CM000685.1:g.153609451A>C	GRCh37
NC_000023.9:g.153262645A>C	NCBI36
NG_008677.1:g.11656A>C , LRG_745:g.11656A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.572+87A>C	ENSP00000507245.1:n.572+87A>C
ENST00000682478.1:n.762+87A>C
ENST00000683576.1:n.849A>C
ENST00000683627.1:c.659A>C	ENSP00000507533.1:p.Asp220Ala
ENST00000684082.1:c.616A>C	ENSP00000508266.1:n.616A>C
ENST00000684633.1:n.631A>C
ENST00000684678.1:c.568+87A>C	ENSP00000507059.1:n.568+87A>C
ENST00000369842.9:c.659A>C MANE Select	ENSP00000358857.4:p.Asp220Ala
ENST00000369835.3:c.554A>C	ENSP00000358850.3:p.Asp185Ala
ENST00000369842.8:c.659A>C	ENSP00000358857.4:p.Asp220Ala
ENST00000428228.5:c.*564A>C	ENSP00000401081.1:n.*564A>C
ENST00000471965.1:n.448A>C
ENST00000486738.5:n.1096A>C
ENST00000492448.1:n.642A>C
NM_000117.2:c.659A>C , LRG_745t1:c.659A>C	NP_000108.1:p.Asp220Ala
XM_024452349.1:c.665A>C	XP_024308117.1:p.Asp222Ala
NM_000117.3:c.659A>C MANE Select	NP_000108.1:p.Asp220Ala