Canonical Allele Identifier: CA415257015

Gene: EMD

Linked Data

• dbSNP Id: rs2067873334
• gnomAD v4: X-154379534-G-A
• MyVariant Identifiers: chrX:g.153607894G>A (hg19) ; chrX:g.154379534G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379534G>A , CM000685.2:g.154379534G>A	GRCh38
NC_000023.10:g.153607894G>A , CM000685.1:g.153607894G>A	GRCh37
NC_000023.9:g.153261088G>A	NCBI36
NG_008677.1:g.10099G>A , LRG_745:g.10099G>A
NG_011506.1:g.113C>T
NG_011506.2:g.105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.50G>A	ENSP00000507245.1:p.Arg17His
ENST00000682478.1:n.26G>A
ENST00000683576.1:n.26G>A
ENST00000683627.1:c.50G>A	ENSP00000507533.1:p.Arg17His
ENST00000684082.1:c.50G>A	ENSP00000508266.1:p.Arg17His
ENST00000684633.1:n.26G>A
ENST00000684678.1:c.50G>A	ENSP00000507059.1:p.Arg17His
ENST00000369842.9:c.50G>A MANE Select	ENSP00000358857.4:p.Arg17His
ENST00000369835.3:c.50G>A	ENSP00000358850.3:p.Arg17His
ENST00000369842.8:c.50G>A	ENSP00000358857.4:p.Arg17His
ENST00000428228.5:c.50G>A	ENSP00000401081.1:p.Arg17His
ENST00000468294.5:n.10G>A
ENST00000485261.1:n.131G>A
ENST00000486738.5:n.194G>A
ENST00000494443.5:n.107G>A
NM_000117.2:c.50G>A , LRG_745t1:c.50G>A	NP_000108.1:p.Arg17His
XM_024452349.1:c.-159G>A	XP_024308117.1:n.-159G>A
NM_000117.3:c.50G>A MANE Select	NP_000108.1:p.Arg17His