Canonical Allele Identifier: CA415257717

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153608359C>G (hg19) ; chrX:g.154379999C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154379999C>G , CM000685.2:g.154379999C>G	GRCh38
NC_000023.10:g.153608359C>G , CM000685.1:g.153608359C>G	GRCh37
NC_000023.9:g.153261553C>G	NCBI36
NG_008677.1:g.10564C>G , LRG_745:g.10564C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.245C>G	ENSP00000507245.1:p.Ala82Gly
ENST00000682478.1:n.221C>G
ENST00000683576.1:n.221C>G
ENST00000683627.1:c.245C>G	ENSP00000507533.1:p.Ala82Gly
ENST00000684082.1:c.245C>G	ENSP00000508266.1:p.Ala82Gly
ENST00000684633.1:n.217C>G
ENST00000684678.1:c.241C>G	ENSP00000507059.1:n.241C>G
ENST00000369842.9:c.245C>G MANE Select	ENSP00000358857.4:p.Ala82Gly
ENST00000369835.3:c.140C>G	ENSP00000358850.3:p.Ala47Gly
ENST00000369842.8:c.245C>G	ENSP00000358857.4:p.Ala82Gly
ENST00000428228.5:c.*150C>G	ENSP00000401081.1:n.*150C>G
ENST00000468294.5:n.205C>G
ENST00000485261.1:n.221C>G
ENST00000486738.5:n.389C>G
ENST00000492448.1:n.228C>G
ENST00000494443.5:n.302C>G
NM_000117.2:c.245C>G , LRG_745t1:c.245C>G	NP_000108.1:p.Ala82Gly
XM_024452349.1:c.37C>G	XP_024308117.1:p.Leu13Val
NM_000117.3:c.245C>G MANE Select	NP_000108.1:p.Ala82Gly