Canonical Allele Identifier: CA415259175

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609460T>C (hg19) ; chrX:g.154381100T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381100T>C , CM000685.2:g.154381100T>C	GRCh38
NC_000023.10:g.153609460T>C , CM000685.1:g.153609460T>C	GRCh37
NC_000023.9:g.153262654T>C	NCBI36
NG_008677.1:g.11665T>C , LRG_745:g.11665T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+96T>C	ENSP00000507245.1:n.572+96T>C
ENST00000682478.1:n.762+96T>C
ENST00000683576.1:n.858T>C
ENST00000683627.1:c.668T>C	ENSP00000507533.1:p.Val223Ala
ENST00000684082.1:c.625T>C	ENSP00000508266.1:n.625T>C
ENST00000684633.1:n.640T>C
ENST00000684678.1:c.568+96T>C	ENSP00000507059.1:n.568+96T>C
ENST00000369842.9:c.668T>C MANE Select	ENSP00000358857.4:p.Val223Ala
ENST00000369835.3:c.563T>C	ENSP00000358850.3:p.Val188Ala
ENST00000369842.8:c.668T>C	ENSP00000358857.4:p.Val223Ala
ENST00000428228.5:c.*573T>C	ENSP00000401081.1:n.*573T>C
ENST00000471965.1:n.457T>C
ENST00000486738.5:n.1105T>C
ENST00000492448.1:n.651T>C
NM_000117.2:c.668T>C , LRG_745t1:c.668T>C	NP_000108.1:p.Val223Ala
XM_024452349.1:c.674T>C	XP_024308117.1:p.Val225Ala
NM_000117.3:c.668T>C MANE Select	NP_000108.1:p.Val223Ala