Canonical Allele Identifier: CA415258486

Gene: EMD

Linked Data

• gnomAD v4: X-154380904-G-T
• MyVariant Identifiers: chrX:g.153609264G>T (hg19) ; chrX:g.154380904G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380904G>T , CM000685.2:g.154380904G>T	GRCh38
NC_000023.10:g.153609264G>T , CM000685.1:g.153609264G>T	GRCh37
NC_000023.9:g.153262458G>T	NCBI36
NG_008677.1:g.11469G>T , LRG_745:g.11469G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.472G>T	ENSP00000507245.1:p.Asp158Tyr
ENST00000682478.1:n.662G>T
ENST00000683576.1:n.662G>T
ENST00000683627.1:c.472G>T	ENSP00000507533.1:p.Asp158Tyr
ENST00000684082.1:c.429G>T	ENSP00000508266.1:n.429G>T
ENST00000684633.1:n.444G>T
ENST00000684678.1:c.468G>T	ENSP00000507059.1:n.468G>T
ENST00000369842.9:c.472G>T MANE Select	ENSP00000358857.4:p.Asp158Tyr
ENST00000369835.3:c.367G>T	ENSP00000358850.3:p.Asp123Tyr
ENST00000369842.8:c.472G>T	ENSP00000358857.4:p.Asp158Tyr
ENST00000428228.5:c.*377G>T	ENSP00000401081.1:n.*377G>T
ENST00000471965.1:n.261G>T
ENST00000485261.1:n.741G>T
ENST00000486738.5:n.909G>T
ENST00000492448.1:n.455G>T
NM_000117.2:c.472G>T , LRG_745t1:c.472G>T	NP_000108.1:p.Asp158Tyr
XM_024452349.1:c.478G>T	XP_024308117.1:p.Asp160Tyr
NM_000117.3:c.472G>T MANE Select	NP_000108.1:p.Asp158Tyr