Canonical Allele Identifier: CA415257297

Gene: EMD

Linked Data

• gnomAD v4: X-154379698-C-G
• MyVariant Identifiers: chrX:g.153608058C>G (hg19) ; chrX:g.154379698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379698C>G , CM000685.2:g.154379698C>G	GRCh38
NC_000023.10:g.153608058C>G , CM000685.1:g.153608058C>G	GRCh37
NC_000023.9:g.153261252C>G	NCBI36
NG_008677.1:g.10263C>G , LRG_745:g.10263C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.91C>G	ENSP00000507245.1:p.Arg31Gly
ENST00000682478.1:n.67C>G
ENST00000683576.1:n.67C>G
ENST00000683627.1:c.91C>G	ENSP00000507533.1:p.Arg31Gly
ENST00000684082.1:c.91C>G	ENSP00000508266.1:p.Arg31Gly
ENST00000684633.1:n.63C>G
ENST00000684678.1:c.87C>G	ENSP00000507059.1:p.Leu29=
ENST00000369842.9:c.91C>G MANE Select	ENSP00000358857.4:p.Arg31Gly
ENST00000369835.3:c.82+132C>G	ENSP00000358850.3:n.82+132C>G
ENST00000369842.8:c.91C>G	ENSP00000358857.4:p.Arg31Gly
ENST00000428228.5:c.62C>G	ENSP00000401081.1:p.Ser21Trp
ENST00000468294.5:n.51C>G
ENST00000485261.1:n.163+132C>G
ENST00000486738.5:n.235C>G
ENST00000492448.1:n.74C>G
ENST00000494443.5:n.148C>G
NM_000117.2:c.91C>G , LRG_745t1:c.91C>G	NP_000108.1:p.Arg31Gly
XM_024452349.1:c.-118C>G	XP_024308117.1:n.-118C>G
NM_000117.3:c.91C>G MANE Select	NP_000108.1:p.Arg31Gly