Canonical Allele Identifier: CA415259023

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609406C>G (hg19) ; chrX:g.154381046C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381046C>G , CM000685.2:g.154381046C>G	GRCh38
NC_000023.10:g.153609406C>G , CM000685.1:g.153609406C>G	GRCh37
NC_000023.9:g.153262600C>G	NCBI36
NG_008677.1:g.11611C>G , LRG_745:g.11611C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682114.1:c.572+42C>G	ENSP00000507245.1:n.572+42C>G
ENST00000682478.1:n.762+42C>G
ENST00000683576.1:n.804C>G
ENST00000683627.1:c.614C>G	ENSP00000507533.1:p.Ala205Gly
ENST00000684082.1:c.571C>G	ENSP00000508266.1:n.571C>G
ENST00000684633.1:n.586C>G
ENST00000684678.1:c.568+42C>G	ENSP00000507059.1:n.568+42C>G
ENST00000369842.9:c.614C>G MANE Select	ENSP00000358857.4:p.Ala205Gly
ENST00000369835.3:c.509C>G	ENSP00000358850.3:p.Ala170Gly
ENST00000369842.8:c.614C>G	ENSP00000358857.4:p.Ala205Gly
ENST00000428228.5:c.*519C>G	ENSP00000401081.1:n.*519C>G
ENST00000471965.1:n.403C>G
ENST00000486738.5:n.1051C>G
ENST00000492448.1:n.597C>G
NM_000117.2:c.614C>G , LRG_745t1:c.614C>G	NP_000108.1:p.Ala205Gly
XM_024452349.1:c.620C>G	XP_024308117.1:p.Ala207Gly
NM_000117.3:c.614C>G MANE Select	NP_000108.1:p.Ala205Gly