Canonical Allele Identifier: CA415259108

Gene: EMD

Linked Data

• MyVariant Identifiers: chrX:g.153609445G>C (hg19) ; chrX:g.154381085G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154381085G>C , CM000685.2:g.154381085G>C	GRCh38
NC_000023.10:g.153609445G>C , CM000685.1:g.153609445G>C	GRCh37
NC_000023.9:g.153262639G>C	NCBI36
NG_008677.1:g.11650G>C , LRG_745:g.11650G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682114.1:c.572+81G>C	ENSP00000507245.1:n.572+81G>C
ENST00000682478.1:n.762+81G>C
ENST00000683576.1:n.843G>C
ENST00000683627.1:c.653G>C	ENSP00000507533.1:p.Gly218Ala
ENST00000684082.1:c.610G>C	ENSP00000508266.1:n.610G>C
ENST00000684633.1:n.625G>C
ENST00000684678.1:c.568+81G>C	ENSP00000507059.1:n.568+81G>C
ENST00000369842.9:c.653G>C MANE Select	ENSP00000358857.4:p.Gly218Ala
ENST00000369835.3:c.548G>C	ENSP00000358850.3:p.Gly183Ala
ENST00000369842.8:c.653G>C	ENSP00000358857.4:p.Gly218Ala
ENST00000428228.5:c.*558G>C	ENSP00000401081.1:n.*558G>C
ENST00000471965.1:n.442G>C
ENST00000486738.5:n.1090G>C
ENST00000492448.1:n.636G>C
NM_000117.2:c.653G>C , LRG_745t1:c.653G>C	NP_000108.1:p.Gly218Ala
XM_024452349.1:c.659G>C	XP_024308117.1:p.Gly220Ala
NM_000117.3:c.653G>C MANE Select	NP_000108.1:p.Gly218Ala