Canonical Allele Identifier: CA415256978

Gene: EMD

Linked Data

• dbSNP Id: rs1429597161
• gnomAD v4: X-154379525-C-T
• MyVariant Identifiers: chrX:g.153607885C>T (hg19) ; chrX:g.154379525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379525C>T , CM000685.2:g.154379525C>T	GRCh38
NC_000023.10:g.153607885C>T , CM000685.1:g.153607885C>T	GRCh37
NC_000023.9:g.153261079C>T	NCBI36
NG_008677.1:g.10090C>T , LRG_745:g.10090C>T
NG_011506.1:g.122G>A
NG_011506.2:g.114G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.41C>T	ENSP00000507245.1:p.Thr14Ile
ENST00000682478.1:n.17C>T
ENST00000683576.1:n.17C>T
ENST00000683627.1:c.41C>T	ENSP00000507533.1:p.Thr14Ile
ENST00000684082.1:c.41C>T	ENSP00000508266.1:p.Thr14Ile
ENST00000684633.1:n.17C>T
ENST00000684678.1:c.41C>T	ENSP00000507059.1:p.Thr14Ile
ENST00000369842.9:c.41C>T MANE Select	ENSP00000358857.4:p.Thr14Ile
ENST00000369835.3:c.41C>T	ENSP00000358850.3:p.Thr14Ile
ENST00000369842.8:c.41C>T	ENSP00000358857.4:p.Thr14Ile
ENST00000428228.5:c.41C>T	ENSP00000401081.1:p.Thr14Ile
ENST00000468294.5:n.1C>T
ENST00000485261.1:n.122C>T
ENST00000486738.5:n.185C>T
ENST00000494443.5:n.98C>T
NM_000117.2:c.41C>T , LRG_745t1:c.41C>T	NP_000108.1:p.Thr14Ile
XM_024452349.1:c.-168C>T	XP_024308117.1:n.-168C>T
NM_000117.3:c.41C>T MANE Select	NP_000108.1:p.Thr14Ile