Canonical Allele Identifier: CA415258537

Gene: EMD

Linked Data

• ClinVar Variation Id: 498989
• ClinVar RCV Id: RCV000596678 ; RCV000690680
• dbSNP Id: rs1557182611
• MyVariant Identifiers: chrX:g.153609276C>T (hg19) ; chrX:g.154380916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154380916C>T , CM000685.2:g.154380916C>T	GRCh38
NC_000023.10:g.153609276C>T , CM000685.1:g.153609276C>T	GRCh37
NC_000023.9:g.153262470C>T	NCBI36
NG_008677.1:g.11481C>T , LRG_745:g.11481C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.484C>T	ENSP00000507245.1:p.Gln162Ter
ENST00000682478.1:n.674C>T
ENST00000683576.1:n.674C>T
ENST00000683627.1:c.484C>T	ENSP00000507533.1:p.Gln162Ter
ENST00000684082.1:c.441C>T	ENSP00000508266.1:n.441C>T
ENST00000684633.1:n.456C>T
ENST00000684678.1:c.480C>T	ENSP00000507059.1:n.480C>T
ENST00000369842.9:c.484C>T MANE Select	ENSP00000358857.4:p.Gln162Ter
ENST00000369835.3:c.379C>T	ENSP00000358850.3:p.Gln127Ter
ENST00000369842.8:c.484C>T	ENSP00000358857.4:p.Gln162Ter
ENST00000428228.5:c.*389C>T	ENSP00000401081.1:n.*389C>T
ENST00000471965.1:n.273C>T
ENST00000485261.1:n.753C>T
ENST00000486738.5:n.921C>T
ENST00000492448.1:n.467C>T
NM_000117.2:c.484C>T , LRG_745t1:c.484C>T	NP_000108.1:p.Gln162Ter
XM_024452349.1:c.490C>T	XP_024308117.1:p.Gln164Ter
NM_000117.3:c.484C>T MANE Select	NP_000108.1:p.Gln162Ter