Canonical Allele Identifier: CA415257055

Gene: EMD

Linked Data

• gnomAD v4: X-154379542-A-G
• MyVariant Identifiers: chrX:g.153607902A>G (hg19) ; chrX:g.154379542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379542A>G , CM000685.2:g.154379542A>G	GRCh38
NC_000023.10:g.153607902A>G , CM000685.1:g.153607902A>G	GRCh37
NC_000023.9:g.153261096A>G	NCBI36
NG_008677.1:g.10107A>G , LRG_745:g.10107A>G
NG_011506.1:g.105T>C
NG_011506.2:g.97T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.58A>G	ENSP00000507245.1:p.Asn20Asp
ENST00000682478.1:n.34A>G
ENST00000683576.1:n.34A>G
ENST00000683627.1:c.58A>G	ENSP00000507533.1:p.Asn20Asp
ENST00000684082.1:c.58A>G	ENSP00000508266.1:p.Asn20Asp
ENST00000684633.1:n.34A>G
ENST00000684678.1:c.58A>G	ENSP00000507059.1:p.Asn20Asp
ENST00000369842.9:c.58A>G MANE Select	ENSP00000358857.4:p.Asn20Asp
ENST00000369835.3:c.58A>G	ENSP00000358850.3:p.Asn20Asp
ENST00000369842.8:c.58A>G	ENSP00000358857.4:p.Asn20Asp
ENST00000428228.5:c.53+5A>G	ENSP00000401081.1:n.53+5A>G
ENST00000468294.5:n.18A>G
ENST00000485261.1:n.139A>G
ENST00000486738.5:n.202A>G
ENST00000494443.5:n.115A>G
NM_000117.2:c.58A>G , LRG_745t1:c.58A>G	NP_000108.1:p.Asn20Asp
XM_024452349.1:c.-151A>G	XP_024308117.1:n.-151A>G
NM_000117.3:c.58A>G MANE Select	NP_000108.1:p.Asn20Asp